ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.959_962del (p.Asn320fs)

dbSNP: rs398123225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078303 SCV000110143 pathogenic not provided 2013-08-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420761 SCV001623109 pathogenic Fabry disease 2024-02-22 criteria provided, single submitter clinical testing Variant summary: GLA c.959_962delATCA (p.Asn320ArgfsX27) results in a premature termination codon, predicted to cause a truncation of the encoded protein, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (example: c.994dupA p.Arg332LysfsX7, c.1033_1034delTC p.Ser345ArgfsX29). The variant was absent in 183503 control chromosomes. To our knowledge, no occurrence of c.959_962delATCA in individuals affected with Fabry Disease and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 92571). Based on the evidence outlined above, the variant was classified as pathogenic.
Genome-Nilou Lab RCV001420761 SCV002054392 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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