ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003607064 SCV004535649 pathogenic Methylmalonic aciduria, cblA type 2023-02-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MMAA protein in which other variant(s) (p.Gln372*) have been determined to be pathogenic (PMID: 32034731). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MMAA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln363*) in the MMAA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 56 amino acid(s) of the MMAA protein.

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