ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.456C>A (p.Tyr152Ter) (rs1555985827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542303 SCV000622186 pathogenic Fabry disease 2017-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 152 (p.Tyr152*) of 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. This particular variant has been reported in individuals affected with Fabry disease (PMID: 24582695, 16595074). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727447 SCV000708593 pathogenic not provided 2017-05-15 criteria provided, single submitter clinical testing

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