ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.251_252del (p.Arg84fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005200418 SCV005834434 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg84Lysfs*10) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 16835865). This variant is also known as p.R84KfsX9. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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