ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.101A>G (p.Asn34Ser) (rs104894835)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723530 SCV000110100 pathogenic not provided 2018-06-19 criteria provided, single submitter clinical testing
Invitae RCV000011471 SCV000748700 pathogenic Fabry disease 2018-01-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 34 of the GLA protein (p.Asn34Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Fabry disease (PMID: 7504405, 10649504, 7599642). ClinVar contains an entry for this variant (Variation ID: 10724). Experimental studies have shown that this missense change reduces GLA enzymatic activity (PMID: 21598360). A different missense substitution at this codon (p.Asn34Lys) has been reported in an individual affected with Fabry disease (PMID: 16595074). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011471 SCV000031703 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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