ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1564G>T (p.Ala522Ser)

dbSNP: rs2133021306
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912236 SCV002146998 uncertain significance GNE myopathy; Sialuria 2022-03-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 553 of the GNE protein (p.Ala553Ser). This variant has not been reported in the literature in individuals affected with GNE-related conditions. 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. 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.

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