ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1973_1977+28del

dbSNP: rs776641008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726783 SCV000702996 likely pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591068 SCV000775369 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-08-31 criteria provided, single submitter clinical testing This variant results in the deletion of the last 5 nucleotides of exon 17 and affects a donor splice site in intron 17 of the MCCC1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). This variant is present in population databases (rs776641008, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 498130). For these reasons, this variant has been classified as Pathogenic.

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