ClinVar Miner

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

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Total submissions: 1
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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 2016-08-11 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.

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