ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.56T>C (p.Leu19Pro)

dbSNP: rs1928592578
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Total submissions: 2
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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 RCV001174874 SCV001338273 likely pathogenic Fabry disease 2021-07-02 criteria provided, single submitter clinical testing Variant summary: GLA c.56T>C (p.Leu19Pro) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183421 control chromosomes. c.56T>C has been reported in the literature in multiple individuals affected with Fabry Disease (Teragaki_2004, Skrunes_2017, Lubanda_2009, Choi_2017). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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 likely pathogenic.
All of Us Research Program, National Institutes of Health RCV001174874 SCV004827012 uncertain significance Fabry disease 2023-05-04 criteria provided, single submitter clinical testing

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