Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV002254500 | SCV002525760 | likely pathogenic | not provided | 2021-07-14 | criteria provided, single submitter | clinical testing | PM2, PM3, PP3, PP4 |
| Labcorp Genetics |
RCV003094176 | SCV003499774 | likely pathogenic | Maple syrup urine disease | 2025-01-23 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 331 of the BCKDHB protein (p.Ala331Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with maple syrup urine disease (PMID: 31112740). 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: 1691427). 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 BCKDHB protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Fulgent Genetics, |
RCV005042760 | SCV005674013 | likely pathogenic | Maple syrup urine disease type 1B | 2024-01-17 | criteria provided, single submitter | clinical testing |