ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.307G>T (p.Glu103Ter) (rs1569304851)

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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 RCV000781429 SCV000919447 pathogenic Fabry disease 2018-10-09 criteria provided, single submitter clinical testing Variant summary: GLA c.307G>T (p.Glu103X) 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 (eg. p.Trp162X, p.Arg220X, p.Arg227X). The variant was absent in 178768 control chromosomes. c.307G>T has been reported in the literature in an individual affected with Fabry Disease and functional assays show the variant to have an enzyme activity of 0% compared to WT (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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