ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.386T>C (p.Leu129Pro) (rs727503072)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150748 SCV000198198 likely pathogenic Fabry disease 2018-02-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000150748 SCV001362666 pathogenic Fabry disease 2019-11-19 criteria provided, single submitter clinical testing Variant summary: GLA c.386T>C (p.Leu129Pro) 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 183448 control chromosomes. c.386T>C has been reported in the literature in multiple individuals affected with Fabry Disease (Whybra_2001, Sirrs_2010, Chmiel_2018, Lenders_2016). These data indicate that the variant is very likely to be associated with disease. The variant was reported to have an in vitro enzyme activity of 0% compared to wild-type (Lukas_2013). A ClinVar submission (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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