ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.520T>C (p.Cys174Arg)

dbSNP: rs181562693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794754 SCV000934181 pathogenic Fabry disease 2019-02-19 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. For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect GLA protein function (PMID: 27657681, 26044846). This variant has been observed in several individuals and families affected with GLA-related conditions (PMID: 20367968, Invitae). This variant is not present in population databases (ExAC no frequency).

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