ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.776C>G (p.Pro259Arg) (rs869312399)

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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 RCV000726800 SCV000703120 pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV000593162 SCV000815966 pathogenic Fabry disease 2019-06-20 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 259 of the GLA protein (p.Pro259Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Fabry disease (PMID: 11322659, 16595074, 11668641, 28756410, 24582695), and in an individual affected with hypertrophic cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 222384). Experimental studies have shown that this missense change exhibits reduced enzyme activity in transfected cells (PMID: 21598360, 26415523). For these reasons, this variant has been classified as Pathogenic.

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