Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844416 | SCV002103338 | uncertain significance | not specified | 2022-02-09 | criteria provided, single submitter | clinical testing | Variant summary: CYP1B1 c.859G>A (p.Ala287Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 233984 control chromosomes (gnomAD, publications), predominantly at a frequency of 0.0025 within the East Asian subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in CYP1B1 causing Primary Congenital Glaucoma (0.0025 vs 0.0043), allowing no conclusion about variant significance. c.859G>A has been reported in the literature in individuals affected with Primary open angle Glaucoma, without second allele reported or other strong evidence for causality (Chen_2008, Gong_2015, Liu_2020). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as of uncertain significance. Based on the evidence outlined above, the variant was classified as VUS. |
Fulgent Genetics, |
RCV002482348 | SCV002788900 | uncertain significance | Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 | 2022-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003759079 | SCV004449388 | benign | Congenital glaucoma | 2024-01-16 | criteria provided, single submitter | clinical testing |