ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.406G>T (p.Asp136Tyr)

dbSNP: rs1928326804
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Total submissions: 1
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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 RCV001193641 SCV001362609 pathogenic Fabry disease 2019-06-19 criteria provided, single submitter clinical testing Variant summary: GLA c.406G>T (p.Asp136Tyr) 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 183470 control chromosomes (gnomAD). c.406G>T has been reported in the literature in a large family with multiple individuals affected with Fabry Disease (Vedder_2007, Aerts_2007). Residual activity was found to be 0% (Vedder_2007). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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