ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)

dbSNP: rs1928137126
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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 RCV001193674 SCV001362670 likely pathogenic Fabry disease 2019-12-03 criteria provided, single submitter clinical testing Variant summary: GLA c.1045T>C (p.Trp349Arg) results in a non-conservative amino acid change located in the Alpha galactosidase A, C-terminal beta-sandwich domain of 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 183139 control chromosomes. c.1045T>C has been reported in the literature in individuals affected with Fabry Disease (Echevarria_2015, Lee_2010). In vitro data shows the variant to result in <10% of wild-type GLA activity (Lee_2010). 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.

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