ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) (rs571038432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186014 SCV000238976 pathogenic not provided 2015-04-20 criteria provided, single submitter clinical testing p.Arg330Ter (CGA>TGA): c.988 C>T in exon 7 of the MMAA gene (NM_172250.2). The R330X nonsense mutation in the MMAA gene has been reported previously in association with methylmalonic acidemia (MMA), cblA type in an individual who was homozygous for the R330X mutation (Lerner-Ellis et al., 2004). This mutation is predicted to cause loss of normal protein function through protein truncation. The variant is found in MMA-MET panel(s).
GeneReviews RCV000203343 SCV000258481 pathogenic Methylmalonic aciduria cblA type 2016-01-07 no assertion criteria provided literature only

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