ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr)

gnomAD frequency: 0.00008  dbSNP: rs201544164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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, 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

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