Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002019428 | SCV002284477 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2021-03-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 MCCC2 protein function. This variant has not been reported in the literature in individuals with MCCC2-related conditions. This sequence change replaces alanine with glycine at codon 160 of the MCCC2 protein (p.Ala160Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. |