Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000203404 | SCV000796924 | likely pathogenic | Methylmalonic aciduria, cblA type | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000203404 | SCV002259411 | likely pathogenic | Methylmalonic aciduria, cblA type | 2023-08-21 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this missense change affects MMAA function (PMID: 28497574). 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 MMAA protein function. ClinVar contains an entry for this variant (Variation ID: 218971). This missense change has been observed in individuals with cobalamin A type methylmalonic aciduria (PMID: 15523652, 34915869). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 89 of the MMAA protein (p.Leu89Pro). |
Baylor Genetics | RCV000203404 | SCV004193126 | pathogenic | Methylmalonic aciduria, cblA type | 2022-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000203404 | SCV000258471 | not provided | Methylmalonic aciduria, cblA type | no assertion provided | literature only |