ClinVar Miner

Submissions for variant NM_001128227.3(GNE):c.43G>C (p.Gly15Arg)

gnomAD frequency: 0.00003  dbSNP: rs762425552
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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) RCV000262678 SCV000344582 uncertain significance not provided 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001345109 SCV001539209 uncertain significance GNE myopathy; Sialuria 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 15 of the GNE protein (p.Gly15Arg). This variant is present in population databases (rs762425552, gnomAD 0.02%). 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: 290087). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701393 SCV005202200 uncertain significance not specified 2024-07-30 criteria provided, single submitter clinical testing Variant summary: GNE c.43G>C (p.Gly15Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 247436 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.43G>C in individuals affected with Inclusion Body Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 290087). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001828272 SCV002075667 uncertain significance GNE myopathy 2019-10-28 no assertion criteria provided clinical testing

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