ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) (rs1484347924)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579365 SCV000680698 pathogenic not provided 2017-09-05 criteria provided, single submitter clinical testing The R409X nonsense variant in the MCCC1 gene has been reported previously in association with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (Stadler et al., 2006). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R409X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we interpret R409X to be a pathogenic variant.
Invitae RCV000653486 SCV000775365 pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2017-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg409*) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with a pathogenic variant in the MCCC1 gene in an individual affected with 3-Methylcrotonyl-CoA carboxylase deficiency (PMID: 16835865). Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). For these reasons, this variant has been classified as Pathogenic.

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