ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1021G>T (p.Glu341Ter) (rs869312214)

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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 RCV000589205 SCV000695725 pathogenic Fabry disease 2016-06-02 criteria provided, single submitter clinical testing Variant summary: The GLA c.1021G>T (p.Glu341X) variant results in a premature termination codon, predicted to cause a truncated or absent GLA 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.c.1192G>T/p.Glu398X)). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 89910 control chromosomes. This variant has been reported in a FAB family and the variant was shown to co-segregate with disease (Zizzo_2016). The male patient in the family was shown to have nil enzyme activity. Taken together, this variant is classified as a Disease Variant/Pathogenic.

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