Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000002004 | SCV000955887 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-01-06 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 280 of the MCCC2 protein (p.Asp280Tyr). This variant is present in population databases (rs119103226, gnomAD 0.09%). This missense change has been observed in individuals with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 17968484, 22030835, 22150417, 28018443). ClinVar contains an entry for this variant (Variation ID: 1927). 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. |
Genetics and Prenatal Diagnosis Center, |
RCV000002004 | SCV001622419 | likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000002004 | SCV004194350 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-02-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000002004 | SCV005666607 | likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-04-09 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002004 | SCV000022162 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2007-01-01 | no assertion criteria provided | literature only |