ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1565C>T (p.Ala522Val)

dbSNP: rs1563930123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697681 SCV000826306 uncertain significance GNE myopathy; Sialuria 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 553 of the GNE protein (p.Ala553Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of GNE-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 575458). 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.

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