ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.443G>A (p.Ser148Asn)

dbSNP: rs1555985829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597745 SCV000700344 pathogenic not provided 2017-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860148 SCV002124520 pathogenic Fabry disease 2021-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ser148 amino acid residue in GLA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10666480, 19387866, 21598360). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects GLA function (PMID: 18205205, 21598360). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 496827). This missense change has been observed in individual(s) with Fabry disease (PMID: 15091117, 18205205). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 148 of the GLA protein (p.Ser148Asn).

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