ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.634dup (p.Cys212fs)

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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 RCV003602109 SCV004432002 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-01-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MMADHC protein in which other variant(s) (p.Arg250*) have been determined to be pathogenic (PMID: 18385497, 27252276, 28939051, 29620684). 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 MMADHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys212Leufs*7) in the MMADHC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 85 amino acid(s) of the MMADHC protein.

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