ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.456C>A (p.Tyr152Ter)

dbSNP: rs1555985827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542303 SCV000622186 pathogenic Fabry disease 2023-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr152*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fabry disease (PMID: 16595074, 24582695). ClinVar contains an entry for this variant (Variation ID: 453317). For these reasons, this variant has been classified as Pathogenic.
Eurofins Ntd Llc (ga) RCV000727447 SCV000708593 pathogenic not provided 2017-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000542303 SCV002054434 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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