ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.2113G>A (p.Ala705Thr)

gnomAD frequency: 0.00001  dbSNP: rs201216576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000384077 SCV000342611 uncertain significance not provided 2016-06-06 criteria provided, single submitter clinical testing
Invitae RCV001360039 SCV001555934 uncertain significance GNE myopathy; Sialuria 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 736 of the GNE protein (p.Ala736Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs201216576, ExAC 0.003%). 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: 288495). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001828252 SCV002075614 uncertain significance GNE myopathy 2020-01-24 no assertion criteria provided clinical testing

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