ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1250C>T (p.Thr417Met)

gnomAD frequency: 0.00001  dbSNP: rs1554659711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594184 SCV000706186 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000594184 SCV001824367 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic [(Stenson et al., 2014; other references)]; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000594184 SCV003816976 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834895 SCV002075652 uncertain significance GNE myopathy 2020-07-28 no assertion criteria provided clinical testing

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