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: 5
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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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586819 SCV005077560 uncertain significance not specified 2024-04-03 criteria provided, single submitter clinical testing Variant summary: GNE c.1343C>T (p.Thr448Met) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. c.1343C>T has been reported in the literature in individuals affected with Thrombocytopaenia (Zieger_2022, Montcrieff_2022). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 36941763, 35052006). ClinVar contains an entry for this variant (Variation ID: 500300). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001834895 SCV002075652 uncertain significance GNE myopathy 2020-07-28 no assertion criteria provided clinical testing

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