ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.563T>C (p.Val188Ala)

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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 RCV003064935 SCV003452728 uncertain significance Glycogen storage disease due to muscle beta-enolase deficiency 2022-04-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs780137202, gnomAD 0.009%). 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"). This variant has not been reported in the literature in individuals affected with ENO3-related conditions. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 188 of the ENO3 protein (p.Val188Ala).

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