ClinVar Miner

Submissions for variant NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) (rs200763627)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000763620 SCV000836840 pathogenic GNE myopathy; Sialuria 2018-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr6*) in the GNE gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200763627, ExAC 0.3%). This variant has not been reported in the literature in individuals with GNE-related disease. Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733643 SCV000861733 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763620 SCV000894474 likely pathogenic GNE myopathy; Sialuria 2018-10-31 criteria provided, single submitter clinical testing

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