ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.404C>T (p.Ala135Val) (rs1569304221)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780295 SCV000917450 pathogenic Fabry disease 2018-08-14 criteria provided, single submitter clinical testing Variant summary: GLA c.404C>T (p.Ala135Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 178758 control chromosomes. c.404C>T has been reported in the literature in individuals affected with classic Fabry Disease (Dobrovolny_2005, Hulkova_2010, Uceyler_2011). These data indicate that the variant is likely to be associated with disease. In addition, a functional study has shown the variant to result in <10% of wild-type in vitro enzyme activity (Lukas_2013). 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 pathogenic.

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