ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)

gnomAD frequency: 0.00021  dbSNP: rs141103742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197246 SCV001367883 uncertain significance Glycogen storage disease due to muscle beta-enolase deficiency 2019-07-04 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Invitae RCV001197246 SCV001488176 uncertain significance Glycogen storage disease due to muscle beta-enolase deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 39 of the ENO3 protein (p.Ala39Thr). This variant is present in population databases (rs141103742, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ENO3-related conditions. ClinVar contains an entry for this variant (Variation ID: 931059). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ENO3 protein function. 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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