ClinVar Miner

Submissions for variant NC_000003.12:g.(?_183092389)_(183092565_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033389 SCV001196696 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2019-12-17 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 3 of the MCCC1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MCCC1-related conditions. 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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