ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1209AAG[1] (p.Arg404del)

dbSNP: rs869312241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000011504 SCV001416340 pathogenic Fabry disease 2023-03-01 criteria provided, single submitter clinical testing This variant, c.1212_1214del, results in the deletion of 1 amino acid(s) of the GLA protein (p.Arg404del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with Fabry disease (PMID: 7504405, 9100224, 15091117, 25386848). It has also been observed to segregate with disease in related individuals. This variant is also known as 1209del3 or 1208del3. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects GLA function (PMID: 26415523). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001781219 SCV002018435 likely pathogenic not provided 2021-02-08 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV001781219 SCV002501064 likely pathogenic not provided 2021-05-26 criteria provided, single submitter clinical testing
OMIM RCV000011504 SCV000031736 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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