ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)

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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 RCV002866197 SCV003225816 pathogenic Methylmalonic aciduria, cblB type 2022-08-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MMAB protein in which other variant(s) (p.Gln234*) have been determined to be pathogenic (PMID: 16410054, 21604717). 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 MMAB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg186Alafs*36) in the MMAB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acid(s) of the MMAB protein.

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