ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1021G>T (p.Glu341Ter)

dbSNP: rs869312214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589205 SCV000695725 pathogenic Fabry disease 2019-10-22 criteria provided, single submitter clinical testing Variant summary: GLA c.1021G>T (p.Glu341X) 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.1021G>T has been reported in the literature in individuals affected with Fabry Disease and found to have significantly decreased activity (Zizzo_2016). 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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