Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174945 | SCV000226351 | uncertain significance | not provided | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000554324 | SCV000644146 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 481 of the MCCC2 protein (p.Val481Met). This variant is present in population databases (rs767575019, gnomAD 0.1%). This missense change has been observed in individual(s) with positive newborn screening or affected with 3MCC deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 194556). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000554324 | SCV003810820 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2022-07-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000554324 | SCV004194322 | likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-03-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271409 | SCV001452535 | uncertain significance | Methylcrotonyl-CoA carboxylase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |