ClinVar Miner

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

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Total submissions: 3
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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
Foundation for Research in Genetics and Endocrinology,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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