ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)

gnomAD frequency: 0.00012  dbSNP: rs121918404
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728367 SCV000855926 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000728367 SCV001714575 uncertain significance not provided 2020-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000018093 SCV002171587 uncertain significance Glycogen storage disease due to muscle beta-enolase deficiency 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 374 of the ENO3 protein (p.Gly374Glu). This variant is present in population databases (rs121918404, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of ENO3-related conditions (PMID: 11506403). ClinVar contains an entry for this variant (Variation ID: 16618). 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) performed at Invitae indicates that this missense variant is expected to disrupt ENO3 protein function. Experimental studies have shown that this missense change affects ENO3 function (PMID: 18070103). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV000018093 SCV002790833 uncertain significance Glycogen storage disease due to muscle beta-enolase deficiency 2022-03-04 criteria provided, single submitter clinical testing
OMIM RCV000018093 SCV000038372 pathogenic Glycogen storage disease due to muscle beta-enolase deficiency 2001-08-01 no assertion criteria provided literature only

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