ClinVar Miner

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

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Total submissions: 3
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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).
Integrated Genetics/Laboratory Corporation of America RCV001193917 SCV001363091 pathogenic Methylmalonic acidemia 2019-12-12 criteria provided, single submitter clinical testing Variant summary: MMAA c.988C>T (p.Arg330X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8e-06 in 251296 control chromosomes (gnomAD). c.988C>T has been reported in the literature in individuals affected with Methylmalonic Acidemia (Lerner-Ellis_2004, Plessl_2017). These data indicate that the variant is likely to be associated with disease. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar (evaluation after 2014) and cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
GeneReviews RCV000203343 SCV000258481 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2016-01-07 no assertion criteria provided literature only

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