ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) (rs118204048)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000803 SCV001231234 pathogenic Methylmalonic acidemia with homocystinuria cblD 2019-11-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MMADHC gene (p.Arg250*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the MMADHC protein. This variant is not present in population databases (ExAC no frequency). This variant 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.
OMIM RCV000000803 SCV000020953 pathogenic Methylmalonic acidemia with homocystinuria cblD 2008-04-03 no assertion criteria provided literature only

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