ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.520T>C (p.Cys174Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794754 SCV000934181 pathogenic Fabry disease 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 174 of the GLA protein (p.Cys174Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals and families affected with GLA-related conditions (PMID: 20367968, Invitae). This variant has been reported to affect GLA protein function (PMID: 27657681, 26044846). For these reasons, this variant has been classified as Pathogenic.

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