ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.125T>C (p.Met42Thr)

dbSNP: rs398123201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723538 SCV000110106 pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV000078266 SCV000825681 pathogenic Fabry disease 2022-06-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Met42 amino acid residue in GLA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8875188, 18205205, 19287194, 23935525). 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: 26415523). 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: 92541). This missense change has been observed in individual(s) with Fabry disease (PMID: 12175777, 15776423; Invitae). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 42 of the GLA protein (p.Met42Thr).
Genome-Nilou Lab RCV000078266 SCV002054458 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000078266 SCV002787368 pathogenic Fabry disease 2021-10-20 criteria provided, single submitter clinical testing

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