Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054712 | SCV001219061 | uncertain significance | Glycogen storage disease due to muscle beta-enolase deficiency | 2022-11-01 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 850528). This variant has not been reported in the literature in individuals affected with ENO3-related conditions. This variant is present in population databases (rs534374372, gnomAD 0.05%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 400 of the ENO3 protein (p.Arg400Cys). |
Ambry Genetics | RCV002553350 | SCV003733023 | uncertain significance | Inborn genetic diseases | 2022-12-13 | criteria provided, single submitter | clinical testing | The c.1198C>T (p.R400C) alteration is located in exon 11 (coding exon 10) of the ENO3 gene. This alteration results from a C to T substitution at nucleotide position 1198, causing the arginine (R) at amino acid position 400 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |