ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.4G>T (p.Glu2Ter) (rs886044514)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000596007 SCV000485812 likely pathogenic GNE myopathy 2016-02-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790761 SCV000701554 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing
Invitae RCV001386743 SCV001587091 pathogenic GNE myopathy; Sialuria 2020-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu33*) in the GNE gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 290631). Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297). For these reasons, this variant has been classified as Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000596007 SCV000863982 pathogenic GNE myopathy 2018-12-04 no assertion criteria provided clinical testing The observed variant c.2179G>A (p.V727M) is a known pathogenic variant found very commonly in Indian patients related to GNE Myopathy, has been observed in compound heterozygous state with the other observed variant c.97G>T (p.E33X), which has not been reported in 1000 Genomes and ExAC databases but its in-silico prediction was found to be pathogenic by PolyPhen-2, MutationTaster2 and SIFT.

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