Table 1.
SSBP1 Variants Identified in the Current Study
| Family | HGVs | HGVp | Inheritance | gnomAD (MAF) | In Silico | ACMG (accessed May 2021) | Variant Reported | Total Number of Families Carrying Variant (Current Study and Reported) |
|---|---|---|---|---|---|---|---|---|
| Family_1 | c.151A>G | p.(Lys51Glu) | AD | – | Disease causing | Likely pathogenic | This study | 1 |
| GC17489 | (PM2, PP1, PP2, PP3) | |||||||
| Family_2 | c.113G>A | p.(Arg38Gln) | AD | – | Disease causing | Pathogenic | Jurkute et al. (2019) | 5 |
| GC17222 | (PS3, PM1, PM2, PP2, PP3) | Piro-Megy et al. (2020) | ||||||
| Family_3 | c.320G>A | p.(Arg107Gln) | AD | – | Disease causing | Pathogenic | Jurkute et al. (2019) | 7 |
| GC19412 | (PS3, PM1, PM2, PM6, PP2, PP3) | Del Dotto et al. (2020) Piro-Megy et al. (2020) Lee et al. (2021) | ||||||
| Family_4 GC19484 | c.380G>A | p.(Arg127Gln) | AR | 0.00003989 (10 al.) | Disease causing | VUS (PM2, PP2, PP3) | This study | 1 |
| c.394A>G | p.(Ile132Val) | 0.00001417 (4 al.) | Disease causing | Likely pathogenic | Del Dotto et al. (2020) | 2 | ||
| (PS3, PM2, PP2, PP3, PP5) | ||||||||
| Family_5 | c.335G>A | p.(Gly112Glu) | AD | – | Disease causing | Likely pathogenic | This study | 1 |
| (PM1, PM2, PP2, PP3) | ||||||||
Mutation nomenclature was assigned in accordance with GenBank Accession number NM_003143.
ACMG, American College of Medical Genetics; AD, autosomal dominant; al., allele; AR, autosomal recessive; MAF, minor allele frequency; VUS, variant of uncertain significance.