ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1907C>T (p.Ala636Val)

gnomAD frequency: 0.00003  dbSNP: rs756488394
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595393 SCV000704754 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Invitae RCV000702554 SCV000831412 uncertain significance GNE myopathy; Sialuria 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 667 of the GNE protein (p.Ala667Val). This variant is present in population databases (rs756488394, gnomAD 0.005%). 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: 499322). 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 RCV000595393 SCV001998634 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Revvity Omics, Revvity RCV000595393 SCV003815046 uncertain significance not provided 2019-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352934 SCV004071527 likely benign Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001834889 SCV002075624 uncertain significance GNE myopathy 2020-02-21 no assertion criteria provided clinical testing

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