ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.666C>A (p.Tyr222Ter)

dbSNP: rs104894851
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730382 SCV000858113 pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000011517 SCV001413795 pathogenic Fabry disease 2019-09-27 criteria provided, single submitter clinical testing This variant has been observed in a family affected with Fabry disease (PMID: 12694230). ClinVar contains an entry for this variant (Variation ID: 10770). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr222*) in the GLA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000011517 SCV002054420 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing
OMIM RCV000011517 SCV000031749 pathogenic Fabry disease 2003-03-01 no assertion criteria provided literature only

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