ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.914C>T (p.Thr305Ile)

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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 RCV002943909 SCV003277539 uncertain significance Glycogen storage disease due to muscle beta-enolase deficiency 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 305 of the ENO3 protein (p.Thr305Ile). This variant is present in population databases (rs748358058, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ENO3-related conditions. 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 tolerated. 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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