ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1526del (p.Cys509fs)

gnomAD frequency: 0.00003  dbSNP: rs727504002
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790695 SCV000225906 pathogenic not provided 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000174585 SCV000835441 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys509Serfs*14) 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 present in population databases (rs727504002, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with methylcrotonyl-CoA carboxylase deficiency (PMID: 16010683, 22642865). ClinVar contains an entry for this variant (Variation ID: 167269). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000790695 SCV001771437 pathogenic not provided 2021-04-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22642865, 16010683, 22264772, 25732994)
Fulgent Genetics, Fulgent Genetics RCV000174585 SCV002809915 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-12-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000174585 SCV004194272 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273492 SCV001456579 pathogenic Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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