ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.525C>G (p.Asp175Glu) (rs782722844)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695603 SCV000824113 uncertain significance Fabry disease 2018-03-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 175 of the GLA protein (p.Asp175Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals affected with hypertrophic cardiomyopathy (HCM) (PMID: 27532257). Experimental studies have shown that this missense change has a minimal effect on activity of the GLA enzyme (PMID: 23935525). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000695603 SCV001344298 uncertain significance Fabry disease 2019-08-30 criteria provided, single submitter clinical testing

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