ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.296G>A (p.Gly99Glu)

dbSNP: rs1597699325
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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 RCV000811760 SCV000952044 uncertain significance Glycogen storage disease due to muscle beta-enolase deficiency 2018-11-01 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ENO3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 99 of the ENO3 protein (p.Gly99Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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