ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu)

dbSNP: rs2125316074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001823034 SCV002072553 likely pathogenic Glaucoma 3A 2022-01-19 criteria provided, single submitter clinical testing This variant was identified as homozygous._x000D_ Criteria applied: PS3_MOD, PM3, PM2_SUP, PP3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331212 SCV004039032 pathogenic Primary congenital glaucoma 2023-08-11 criteria provided, single submitter clinical testing Variant summary: CYP1B1 c.710C>A (p.Ala237Glu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 245946 control chromosomes (gnomAD). c.710C>A has been reported in the literature as a biallelic genotype in individuals affected with Primary Congenital Glaucoma and in a homozygous individual with juvenile open-angle glaucoma (e.g. Giuffre'_2011, Lopez-Garrido_2013, Souzeau_2015, Alsaif_2019). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function in vitro and found that the variant results inapproximately 20% of normal activity (Medina-Trillo_2016). The following publications have been ascertained in the context of this evaluation (PMID: 29556725, 21815720, 23218183, 27060699, 25950505). One submitter has cited a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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