ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) (rs185741664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725859 SCV000340010 pathogenic not provided 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000281372 SCV000656958 pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2016-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 281 (p.Arg281*) of 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: 16010683). This particular variant has been reported in the literature in an individual recruited by selective metabolic screening (PMID: 22264772). For these reasons, this variant has been classified as Pathogenic.

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