ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) (rs780011606)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578777 SCV000680596 pathogenic not provided 2017-12-06 criteria provided, single submitter clinical testing The R180X nonsense variant has been reported previously in association with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (Stadler et al., 2006; Grunert et al., 2012). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV001066211 SCV001231216 pathogenic 3-methylcrotonyl CoA carboxylase 2 deficiency 2020-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg180*) in the MCCC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780011606, ExAC 0.01%). This variant has been observed in individuals affected with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 16835865, 22642865). ClinVar contains an entry for this variant (Variation ID: 488740). Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). For these reasons, this variant has been classified as Pathogenic.
Nilou-Genome Lab RCV001066211 SCV001810490 pathogenic 3-methylcrotonyl CoA carboxylase 2 deficiency 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271399 SCV001452525 pathogenic Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing
PerkinElmer Genomics RCV001066211 SCV002017233 pathogenic 3-methylcrotonyl CoA carboxylase 2 deficiency 2020-01-25 no assertion criteria provided clinical testing

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