ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1518del (p.Glu506fs)

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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 RCV003461829 SCV004194255 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003461829 SCV004293542 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu506Aspfs*17) 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 clinical features of 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 25190158). For these reasons, this variant has been classified as Pathogenic.

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