ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)

dbSNP: rs104894842
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727594 SCV000854842 pathogenic not provided 2018-08-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000011489 SCV001362611 pathogenic Fabry disease 2019-06-19 criteria provided, single submitter clinical testing Variant summary: GLA c.1020G>A (p.Trp340X) 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.1020G>A has been reported in the literature in individuals affected with Classic Fabry Disease (Eng_1993, Saito_2016, Schafer_2005, Yano_2017). These data indicate that the variant is likely to be associated with disease. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Genome-Nilou Lab RCV000011489 SCV002054385 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000011489 SCV002230934 pathogenic Fabry disease 2021-05-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with Fabry disease (PMID: 29203563, 23935525, 31243236). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 10741). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp340*) in the GLA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the GLA protein.
OMIM RCV000011489 SCV000031721 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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