ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.556del (p.Gln186fs)

dbSNP: rs2108526541
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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 RCV001390502 SCV001592242 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-04-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln186Asnfs*6) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MCCC1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865).

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