ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.777del (p.Gly261fs)

dbSNP: rs1569303213
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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) RCV000732471 SCV000860435 pathogenic not provided 2018-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001222307 SCV001394401 pathogenic Fabry disease 2019-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777). This variant has been observed in individuals affected with Fabry disease (PMID: 9100224, 23935525). ClinVar contains an entry for this variant (Variation ID: 596584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly261Valfs*8) in the GLA gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV000732471 SCV002024282 pathogenic not provided 2019-05-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001222307 SCV002054408 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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