ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.725C>T (p.Ser242Leu)

gnomAD frequency: 0.00004  dbSNP: rs771167726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244426 SCV001417646 uncertain significance GNE myopathy; Sialuria 2023-12-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 273 of the GNE protein (p.Ser273Leu). This variant is present in population databases (rs771167726, gnomAD 0.03%). 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: 969149). 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.
GeneDx RCV001773554 SCV001994335 uncertain significance not provided 2019-07-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Natera, Inc. RCV001829929 SCV002075662 uncertain significance GNE myopathy 2021-01-21 no assertion criteria provided clinical testing

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