ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) (rs104894842)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727594 SCV000854842 pathogenic not provided 2018-08-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000011489 SCV001362611 pathogenic Fabry disease 2019-06-19 criteria provided, single submitter clinical testing Variant summary: GLA c.1020G>A (p.Trp340X) 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 182951 control chromosomes (gnomAD). c.1020G>A has been reported in the literature in individuals affected with Classic Fabry Disease (Eng_1993, Saito_2016, Schafer_2005, Yano_2017). These data indicate that the variant is likely to be associated with disease. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000011489 SCV000031721 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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