Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV002288082 | SCV002578630 | uncertain significance | not provided | 2022-04-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV003097750 | SCV003478757 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-11-11 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 498 of the MCCC2 protein (p.Ser498Phe). This variant is present in population databases (rs757286719, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1708798). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MCCC2 protein function with a positive predictive value of 95%. 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. |
| Ambry Genetics | RCV003101659 | SCV003554790 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.1493C>T (p.S498F) alteration is located in exon 16 (coding exon 16) of the MCCC2 gene. This alteration results from a C to T substitution at nucleotide position 1493, causing the serine (S) at amino acid position 498 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003097750 | SCV003835563 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2022-09-21 | criteria provided, single submitter | clinical testing |