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. 2023 Mar 29;4(3):100188. doi: 10.1016/j.xhgg.2023.100188

Table 2.

GREB1L variant alleles patient ascertainment

Location C Change P Change Exon Gnomad (het/hom) Renal phenotype Uterine phenotype Auricular phenotype Skeletal phenotype Inheritance CADD GERP-RS Study (ID if this study) Reported
Phenotype
18:18963516 c.37C>T p.R13∗ 3 0 + – – – NK 37 4.5 Sanna-Cherchi et al.24 CAKUT
18:18964302 c.293C>G p.S98∗ 4 0 + – – – de novo 36 5.35 Boissel et al. 201848 CAKUT
18:18964356 c.347C>T p.T116I 4 0 – – + – maternal 29.6 5.25 Schrauwen et al. 202049 Auricular
18:18975373 c.383G>A p.R128H 5 0 + + – – NK 34 4.99 Sanna-Cherchi et al.24 CAKUT
18:18981131 c.553G>A p.G185S 6 0 + + – – maternal 32 5.5 This Study (BH9092-1) MRKH 2
18:18981153 c.575G>A p.R192Q 6 0 – + – – maternal 27.1 5.8 This Study (MRK17039400102) MRKH 1
18:18981153 c.575G>T p.R192L 6 0 + – – – maternal 26.1 5.8 De Tomasi et al.26 CAKUT
18:18981283 c.705G>T p.W235C 6 0 + + – – paternal/maternal 30 5.8 Herlin et al.21 MRKH 2
18:18983941 c.818G>T p.G273V 7 0 + – – – NK 24.8 5.07 Sanna-Cherchi et al.24 CAKUT
18:19019497 c.848A>G p.N283S 8 0 – – + – paternal (affected) 9.921 3.44 Schrauwen et al. 202049 Auricular
18:19020262 c.982C>T p.R328∗ 9 0 – – + – de novo 38 4.52 Schrauwen et al.25 Auricular
18:19020263 c.983G>A p.R328Q 9 0 + – – – maternal 34 5.48 De Tomasi et al.26 CAKUT
18:19029567 c.1490C>G p.A497G 12 0 + – – – NK 14.35 4.4 Sanna-Cherchi et al.24 CAKUT
18:19029635 c.1558G>A p.D520N 12 0 + + – – NK 25 5.57 This Study (SEA13841) MRKH 2
18:19029659 c.1582delC p.Q528Rfs∗12 12 0 + + – + maternal – – De Tomasi et al.26 CAKUT
18:19031043 c.1780G>T p.E594∗ 13 0 + + – – maternal 40 6.04 De Tomasi et al.26 CAKUT
18:19031076 c.1813A>C p.S605R 13 0 + + – – paternal 24.8 5.88 De Tomasi et al.26 CAKUT
18:19032046 c.1852G>A p.D618N 14 2.1E-5 (4/0) + + – + – 27.3 5.68 Jacquinet et al.22 MRKH 2
18:19032130 c.1936T>C p.C646R 14 0 – + – – – 11.14 4.67 Jacquinet et al.22 MRKH 1
18:19034490 c.2148 G>T p.L716F 15 0 + – – – NK 24.5 4.43 De Tomasi et al.26 CAKUT
18:19053036 c.2227delC p.Q743Rfs∗10 16 0 + + – + maternal – – Jacquinet et al.22 MRKH 2
18:19053060 c.2251C>T p.R751C 16 0 + + – – maternal 34 5.21 De Tomasi et al.26 CAKUT
18:19053061 c.2252 G>A p.R751H 16 2.6E-5 (4/0) + – – – maternal 34 6.08 De Tomasi et al.26 CAKUT
18:19053090 c.2281G>C p.E761Q 16 0 + – – – paternal 23.8 5.2 Sanna-Cherchi et al.24 CAKUT
18:19053090 c.2281G>C p.E761Q 16 0 + – – – paternal 23.8 5.2 Sanna-Cherchi et al.24 CAKUT
18:19053121 c.2312C>T p.P771L 16 3.2E-5 (1/0) + + – + – 34 6.08 Jacquinet et al.22 MRKH 2
18:19053130 c.2321T>A p.L774Q 16 0 – – – + NA 29.8 6.08 This Study (WGC098981D) Scoliosis
18:19070004 c.2722T>C p.C908R 19 0 – + – – NK 25.5 5.71 This Study (SEA13921) MRKH 1
18:19070069 –
19070070		 c.2787_2788
delCG		 p.D930Pfs∗12 19 0 + + – – both – – Jacquinet et al.22 MRKH 2
18:19070185 c.2903C>T p.A968V 19 0 + – – – de novo 34 5.98 Bossei et al. 2018 CAKUT
18:19070208 c.2926C>T p.Q976∗ 19 0 + – – – maternal 40 5.98 De Tomasi et al.26 CAKUT
18:19070229 c.2947G>A p.G983S 19 0 – – – + NA 29.4 5.98 This Study (BH12128-1) Scoliosis
18:19075668 c.3068G>A p.R1023Q 20 1.3E-5 (2/0) – + – – NK 24.1 4.55 This Study (SEA13879) MRKH 1
18:19075685 c.3085G>A p.D1029N 20 6.4E-6 (1/0) – + – – NK 23.6 5.42 This Study (MRK17026300102) MRKH 1
18:19075747 c.3146 + 1G>A splicing 20 0 – + – – NK – – This Study (MRK17161200102) MRKH 1
18:19076435 c.3167T>C p.L1056P 21 0 + + – – NK 27.9 5.4 This Study (BH9107-1) MRKH 2
18:19076465 c.3197G>C p.R1066P 21 1.3E-5 (2/0) + – – – NK 34 5.4 Sanna-Cherchi et al.24 CAKUT
18:19076473 c.3205T>A p.L1069M 21 0 + + – – maternal 23.5 1.8 This Study (BH9125-1) MRKH 2
18:19076563 c.3295C>T p.Q1099∗ 21 0 + – – – maternal 37 3.78 Sanna-Cherchi et al.24 CAKUT
18:19076621 c.3353G>A p.R1118Q 21 0 – + – – NK 28.6 5.59 This Study (MRK17167400102) MRKH 1
18:19080481 c.3970-20A>G p.V1324Lfsa34 23 0 + + – + paternal – – Jacquinet et al.22 MRKH 2
18:19080514 c.3983G>A p.G1328D 23 0 + + – – – 29.1 4.68 Jacquinet et al.22 MRKH 2
18:19080529 c.3998insC p.L1334Pfsa18 23 0 + – – – maternal – – Sanna-Cherchi et al.24 CAKUT
18:19080585 –
19080587		 c.4054_4056
delGAG		 p.E1352- 23 0 + + – – NK – – This Study (BH9124-1) MRKH 2
18:19085910 c.4368G>T Splicing 25 0 – – + – de novo – – Schrauwen et al.25 Auricular
18:19088078 c.4369-1G>C Splicing 26 0 + + – + maternal – – De Tomasi et al.26 CAKUT
18:19088215 c.4505T>C p.M1502T 26 0 + – – + maternal 24.8 4.39 De Tomasi et al.26 CAKUT
18:19088236 c.4526A>T p.D1509V 26 6.4E-6 (1/0) + – – – NK 26.3 5.55 De Tomasi et al.26 CAKUT
18:19088393 c.4576C>T p.R1526a 27 0 – + – – paternal 48 5.83 This Study (MRK18134900102) MRKH 1
18:19088424 c.4607A>G p.H1536R 27 0 + + – + maternal 23.3 5.83 De Tomasi et al.26 CAKUT
18:19088463 c.4646T>C p.V1549A 27 0 + + – – NK 26.1 5.83 Sanna-Cherchi et al.24 CAKUT
18:19088489 c.4672C>A p.R1558S 27 5.4E-6 (2/0) + – – – maternal 34 5.83 De Tomasi et al.26 CAKUT
18:19088497 c.4680C>A p.Y1560a 27 0 + + – – maternal 45 5.83 Sanna-Cherchi et al.24 CAKUT
18:19088517 c.4700T>C p.L1567P 27 0 + – – – de novo 28.2 5.83 Sanna-Cherchi et al.24 CAKUT
18:19088544 c.4727C>T p.A1576V 27 0 + – + – NK 33 5.83 De Tomasi et al.26 CAKUT
18:19093889 c.4843G>A p.V1615I 28 2.3E-5 (2/0) + – – – maternal 24.5 5.88 Sanna-Cherchi et al.24 CAKUT
18:19095440 c.4964T>C p.I1655T 29 0 + – + + paternal 23.8 6.06 Sanna-Cherchi et al.24 CAKUT
18:19095467 c.4991A>C p.Y1664S 29 0 + – – – NK 29 6.06 Sanna-Cherchi et al.24 CAKUT
18:19095544 c.5068G>A p.V1690M 29 0 + – – – paternal 29.6 6.06 Sanna-Cherchi et al.24 CAKUT
18:19096642 c.5198A>G p.N1733S 30 0 + + – – both 26.5 5.89 Jacquinet et al.22 MRKH 2
18:19098046 c.5323 G>A p.D1775N 31 0 + – + – NK 34 5.75 De Tomasi et al.26 CAKUT
18:19098101 c.5378T>G p.L1793R 31 0 + – – – de novo/mat
ernal		 31 5.97 Brophy et al.27 CAKUT
18:19098118 –
19098119		 c.5395_5396
delAA		 p.K1799Tfsa8 31 0 + + – – NK – – This Study (BH9131-1) MRKH 2
18:19098164 c.5441C>A p.A1814D 31 0 + + – – NK 34 5.97 This Study (MRK18134100102) MRKH 2
18:19102618 c.5608+1delG p.G1780Vfsa21 33 0 + – – – de novo/mat
ernal		 – – Brophy et al.27 CAKUT
18:19102660 c.5650C>T p.R1884C 33 3.2E-5 (4/0) – + – – NK 34 5.99 This Study (MRK17147200102) MRKH 1
18:19102661 c.5651G>A p.R1884H 33 3.2E-5 (4/0) + – – – NK 32 5.99 Sanna-Cherchi et al.24 CAKUT
18:18963479–19154805 del CNV 3–33 0 + + – – NK – – This Study (BH9101-1) MRKH 2

Abbreviations: +, present; −, absent or not confirmed; CADD, Combined Annotation Dependent Depletion; CNV, Copy-Number-Variant; GERP-RS, Genomic Evolutionary Rate Profiling Rejected Substitution; NK, not known. All variants refer to the GRCh37/Hg19 genome assembly build and to RefSeq transcript ID NM_001142966.3.