ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln)

gnomAD frequency: 0.00001  dbSNP: rs1322216100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046580 SCV001210487 uncertain significance Glycogen storage disease due to muscle beta-enolase deficiency 2019-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 394 of the ENO3 protein (p.Lys394Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant has not been reported in the literature in individuals with ENO3-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 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").

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