. Author manuscript; available in PMC: 2021 Aug 17.

Published in final edited form as: Hum Mutat. 2021 May 24;42(7):877–890. doi: 10.1002/humu.24218

Table 1:

Summary of new and previously reported MAB21L1 variants.

ID	Age; ancestry	DNA change^a	Protein change	gnomAD^b	Predicted Effect^c												Phenotype
ID	Age; ancestry	DNA change^a	Protein change	gnomAD^b	SIFT	PP	MT	MA	FM	REV	CADD	GERP	Phy	RNA fold	Micro	RBP	Eye	Other
HETEROZYGOUS AND COMPOUND HETEROZYGOUS VARIANTS
Individual 1A (this report)	3 y; Black/Hispanic	c.152G>T	p.Arg51Leu	0/~250,000	D	D	D	D	D	0.68	29.6	5.66	7.78	-	-	-	B microphthalmia, microcornea, aniridia, microspherophakia, nystagmus	NR
Individual 1B (this report)	25 y; Black/Hispanic	c.152G>T	p.Arg51Leu	0/~250,000	D	D	D	D	D	0.68	29.6	5.66	7.78	-	-	-	B microphthalmia, microcornea, aniridia, ectopia lentis	NR
Individual 2 (this report)	6 m; South Asian	c.184C>T	p.Arg62Cys	2/30,616	T	D	D	D	D	0.59	31	5.66	9.87	-	-	-	L microphthalmia, coloboma; R cataract	NR
Individual 2 (this report)	6 m; South Asian	c.-68T>C	-	0/~31,000	-	-	-	-	D	-	-	3.36	1.01	U	-	A	L microphthalmia, coloboma; R cataract	NR
Individual 3 (this report)	2 y; White	c.658G>C	p.Gly220Arg	1/112,548	T	D	D	D	D	0.45	26.2	5.76	7.80	-	-	-	B microphthalmia, coloboma	NR
Individual 3 (this report)	2 y; White	c.*529A>G	-	715/15,432	-	-	-	-	D	-	-	5.24	2.20	U	A	A	B microphthalmia, coloboma	NR
HOMOZYGOUS VARIANTS
Bruel et al. 2017	7 y; Algerian	c.735dup	p.Cys246Leufs	0/~250,000	Premature truncation									-	-	-	Corneal dystrophy, buphthalmos, strabismus, nystagmus	FD, SA, GD, CM
Rad et al. 2019: Fam 1	5 y, 7 y, 17 y 7 m; Persian	c.841del	p.Glu281Aspfs	0/~250,000	Premature truncation									-	-	-	Corneal dystrophy, strabismus, nystagmus	FD, SA, AL, GD, CM
Rad et al. 2019: Fam 2	26 m; Persian	c.698A>C	p.Gln233Pro	0/~280,000	D	T	D	T	D	0.33	25.2	5.76	8.0	-	-	-	Corneal dystrophy, nystagmus, retinal dystrophy, optic atrophy	FD, SA, CM
Rad et al. 2019: Fam 3	2 y; Lebanese Shia	c.279_286 del	p.Ser93Serfs	0/~250,000	Premature truncation									-	-	-	Corneal dystrophy	FD, AL, GD, CM
Rad et al. 2019: Fam 4	18 y 9 m; Turkish	c.859del	p.Arg287Glufs	0/~250,000	Premature truncation									-	-	-	Corneal dystrophy, nystagmus	FD, SA, GD, CM
Rad et al. 2019: Fam 5	10 y, 16 y, 6 m, 12 m; Turkish	c.840C>G	p.Tyr280*	0/~250,000	Premature truncation									-	-	-	Corneal dystrophy, nystagmus	FD, SA, AL, GD, CM

RefSeq NM_005584.4;

gnomAD frequency for the relevant population is indicated;

programs utilized: PP- PolyPhen; MT- Mutation Taster; MA- Mutation Assessor; FM- FATHMM-MKL; REV-REVEL; CADD- CADD PHRED; GERP- GERP++ RS; Phy- PhyloP; Micro- MicroSNiPer & PolymiRTS; RBP- RBPmap;

A altered; AL absent labia majora; B bilateral; CM cerebellar malformation; D damaging; FD facial dysmorphism; GD global development delay; L left; NR none reported; R right; SA scrotal agenesis; T tolerated; U unaffected ; - not applicable or not assessed.