ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)

dbSNP: rs139347806
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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) RCV000381904 SCV000334871 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing
Invitae RCV001313296 SCV001503787 uncertain significance GNE myopathy; Sialuria 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 715 of the GNE protein (p.Arg715Cys). This variant is present in population databases (rs139347806, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 283051). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GNE protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000381904 SCV001795141 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001833325 SCV002075618 uncertain significance GNE myopathy 2020-03-11 no assertion criteria provided clinical testing

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