ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.969del (p.Leu324fs)

dbSNP: rs2147471863
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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 RCV001358705 SCV001554528 pathogenic Fabry disease 2021-03-23 criteria provided, single submitter clinical testing Variant summary: GLA c.969delC (p.Leu324TrpfsX24) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 183503 control chromosomes. c.969delC has been reported in the literature in individuals affected with Fabry Disease, including a family with an affected mother and two affected sons (Fall_2016, Cui_2021, Lee_2019). 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 pathogenic.
Revvity Omics, Revvity RCV001780267 SCV002018450 likely pathogenic not provided 2021-02-03 criteria provided, single submitter clinical testing

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