ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.290C>T (p.Ala97Val) (rs1569304867)

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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 RCV000729402 SCV000857060 pathogenic not provided 2018-05-08 criteria provided, single submitter clinical testing
Invitae RCV000796776 SCV000936303 pathogenic Fabry disease 2018-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 97 of the GLA protein (p.Ala97Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Fabry disease (PMID: 9100224, 12911529, 11531969, 21598360, Invitae). Experimental studies have shown that this missense change disrupts protein folding, protein stability and abrogates GLA enzyme activity (PMID: 17555407, 17532296, 21598360). This variant disrupts the p.Ala97 amino acid residue in GLA. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 12207598), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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