Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542781 | SCV000644148 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2023-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 520 of the MCCC2 protein (p.Tyr520Ser). This variant is present in population databases (rs150327768, gnomAD 0.004%). This missense change has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (PMID: 21071250; Invitae). ClinVar contains an entry for this variant (Variation ID: 467805). 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. For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV001271411 | SCV001452537 | uncertain significance | Methylcrotonyl-CoA carboxylase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |