ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.124A>G (p.Met42Val) (rs797044613)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727558 SCV000854791 pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV001063224 SCV001228061 pathogenic Fabry disease 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 42 of the GLA protein (p.Met42Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fabry disease (PMID: 8875188, 19287194, 18205205). ClinVar contains an entry for this variant (Variation ID: 222174). This variant has been reported to affect GLA protein function (PMID: 23935525, 19287194). This variant disrupts the p.Met43 amino acid residue in GLA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15492942, 15712228, 27657681). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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