ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) (rs780068818)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667884 SCV000792396 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000489927 SCV000576917 pathogenic not provided 2017-04-14 criteria provided, single submitter clinical testing The R152X nonsense variant in the MUT gene has been reported previously in association with methylmalonic acidemia. (Martínez et al., 2005; Dündar et al., 2012; Sawangareetrakul et al., 2015). The R152X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret R152X to be a pathogenic variant.
Invitae RCV000667884 SCV000833732 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg152*) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780068818, ExAC 0.01%). This variant has been reported in combination with other MUT variants in individuals affected with methylmalonic acidemia (PMID: 16281286). ClinVar contains an entry for this variant (Variation ID: 426467). Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.

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