ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) (rs104894843)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723730 SCV000110101 pathogenic not provided 2018-06-28 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000011491 SCV000993561 pathogenic Fabry disease 2018-12-10 criteria provided, single submitter research
Invitae RCV000011491 SCV000283689 pathogenic Fabry disease 2018-11-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GLA gene (p.Arg342*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 88 amino acids of the GLA protein. This variant has been reported in individuals affected with Fabry disease (PMID: 8395937, 16595074, 19287194, 20505683, 23980562, 26297554, 20505683). Experimental studies have shown that this nonsense change abolishes GLA activity (PMID: 20505683). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011491 SCV000031723 pathogenic Fabry disease 1993-07-01 no assertion criteria provided literature only

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