ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.337T>C (p.Phe113Leu) (rs869312142)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Inherited Cardiovascular Diseases,IRCCS Fondazione Policlinico San Matteo RCV000991314 SCV001134929 pathogenic Fabry disease 2019-12-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000991314 SCV001426781 pathogenic Fabry disease 2020-07-08 criteria provided, single submitter clinical testing Variant summary: GLA c.337T>C (p.Phe113Leu) 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 183395 control chromosomes. c.337T>C has been reported in the literature in numerous individuals affected with Fabry Disease and is reported as a variant causing late-onset disease (Oliveria_2020, Park_2009, Nowak_2017). The variant showed significantly reduced alpha-Gal activity in both patient fibroblasts and COS-7 cells transfected with the variant, and showed responsive to 1-deoxygalactonojirimycin (DGJ) (Park_2009, Ishii_2007). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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