ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)

dbSNP: rs118204048
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000000803 SCV001231234 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg250*) in the MMADHC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the MMADHC protein. This variant is present in population databases (rs118204048, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with cobalamin D deficiency (PMID: 18385497, 27252276, 28939051, 29620684). ClinVar contains an entry for this variant (Variation ID: 767). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV001818114 SCV002064502 pathogenic not provided 2017-09-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000000803 SCV004193223 likely pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-10-11 criteria provided, single submitter clinical testing
OMIM RCV000000803 SCV000020953 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2008-04-03 no assertion criteria provided literature only

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