ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1731+1del

dbSNP: rs2530057514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002642488 SCV005661946 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002642488 SCV002970235 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-01-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as c.1731+1del. This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile578Leufs*21) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. 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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