ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.994dup (p.Arg332fs) (rs1569302887)

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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 RCV000780294 SCV000917449 pathogenic Fabry disease 2018-08-14 criteria provided, single submitter clinical testing Variant summary: GLA c.994dupA (p.Arg332LysfsX7) 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 (e.g., p.Glu341X and p.Glu398X). The variant was absent in 200380 control chromosomes. c.994dupA has been reported in the literature in individuals affected with Fabry Disease. These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating plasma lyso-Gb3 levels in patients, which is significantly increased compared to healthy controls (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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