ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.890C>T (p.Ser297Phe)

dbSNP: rs28935489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000011484 SCV003445308 pathogenic Fabry disease 2022-06-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ser297 amino acid residue in GLA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7504405, 12428061, 19287194, 26238931). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 10737). This missense change has been observed in individual(s) with Fabry disease (PMID: 7504405, 19287194, 31620600). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 297 of the GLA protein (p.Ser297Phe).
OMIM RCV000011484 SCV000031716 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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