ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1630del (p.Arg544fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470059 SCV004194269 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003470059 SCV004629320 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-01-06 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 31901042). This sequence change creates a premature translational stop signal (p.Arg544Aspfs*2) 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). For these reasons, this variant has been classified as Pathogenic.

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