ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1639G>A (p.Gly547Ser)

dbSNP: rs1306768272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698114 SCV000826757 uncertain significance GNE myopathy; Sialuria 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 578 of the GNE protein (p.Gly578Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. 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 disruptive. 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. RCV001825370 SCV002075637 uncertain significance GNE myopathy 2021-02-25 no assertion criteria provided clinical testing

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