ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) (rs797044777)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179730 SCV000232024 pathogenic not provided 2015-02-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781423 SCV000919441 pathogenic Fabry disease 2018-05-08 criteria provided, single submitter clinical testing Variant summary: GLA c.1235_1236delCT (p.Thr412SerfsX?) results in the elimination of a stop codon and subsequent elongated protein (448 amino acids vs 429). The variant was absent in 178810 control chromosomes (gnomAD and publications). The variant, c.1235_1236delCT, has been reported in the literature in individuals affected with Fabry Disease, including multiple families showing segregation of the variant with disease (Shabbeer_2005, Blaydon_2001, Juchniewicz_2018, McCloskey_2018). 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. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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