ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.826A>G (p.Ser276Gly) (rs869312432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703679 SCV000832592 pathogenic Fabry disease 2019-10-15 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 276 of the GLA protein (p.Ser276Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with Fabry disease (PMID: 21598360, 26415523). Experimental studies have shown that this missense change results in loss of alpha-galactosidase enzyme activity (PMID: 21598360, 19387866, 26415523). Two different missense substitutions at this codon (p.Ser276Arg, p.Ser276Asn) have been reported in individuals affected with Fabry disease (PMID: 15776423, Invitae). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729606 SCV000857280 pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing

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