ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) (rs398123217)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078290 SCV000110130 pathogenic not provided 2012-12-18 criteria provided, single submitter clinical testing
Invitae RCV000822976 SCV000963808 pathogenic Fabry disease 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 216 of the GLA protein (p.Tyr216Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Fabry disease in a family (Invitae), and has also been observed to be hemizygous in multiple individuals affected with Fabry disease (PMID: 19941952, 20367968, 27560961, 28756410). ClinVar contains an entry for this variant (Variation ID: 92561). This variant has been reported to affect GLA protein function (PMID: 19941952). For these reasons, this variant has been classified as Pathogenic.

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