ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)

gnomAD frequency: 0.00002  dbSNP: rs864309726
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Total submissions: 4
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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
GeneReviews RCV000203404 SCV000258471 not provided Methylmalonic aciduria, cblA type no assertion provided literature only

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