ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.545_570del (p.Leu182fs)

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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 RCV002880621 SCV003231826 pathogenic Methylmalonic aciduria, cblB type 2022-08-21 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 present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu182Profs*28) in the MMAB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the MMAB protein.

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