ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1354A>G (p.Met452Val)

gnomAD frequency: 0.00001  dbSNP: rs746051210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669292 SCV000794031 uncertain significance GNE myopathy 2017-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001349759 SCV001544119 uncertain significance GNE myopathy; Sialuria 2024-04-16 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 483 of the GNE protein (p.Met483Val). This variant is present in population databases (rs746051210, gnomAD 0.004%). 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: 553775). 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. 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.
Natera, Inc. RCV000669292 SCV002075645 uncertain significance GNE myopathy 2019-10-28 no assertion criteria provided clinical testing

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