ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.607A>G (p.Met203Val)

dbSNP: rs1269845468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704968 SCV000833944 uncertain significance GNE myopathy; Sialuria 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 234 of the GNE protein (p.Met234Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GNE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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