ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.212G>A (p.Arg71Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005212294 SCV005859529 uncertain significance GNE myopathy; Sialuria 2024-04-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 102 of the GNE protein (p.Arg102Lys). This variant is present in population databases (rs751870439, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GNE-related conditions. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GNE protein function. This variant disrupts the p.Arg102 amino acid residue in GNE. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20059379; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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