ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)

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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 RCV003495430 SCV004248627 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu84Argfs*3) in the MMADHC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMADHC are known to be pathogenic (PMID: 18385497). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MMADHC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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