ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.639+2T>A (rs199914879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532293 SCV000656957 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-04-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the MCCC1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in an individual affected with MCC deficiency (PMID: 22642865). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in MCCC1 are known to be pathogenic (PMID: 22642865). For these reasons, this variant has been classified as Pathogenic.
Beijing Key Laboratry for Genetics of Birth Defects,Beijing Children's Hospital RCV000532293 SCV001739453 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-02-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275517 SCV001460702 pathogenic Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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