ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000725859 SCV000340010 pathogenic not provided 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000281372 SCV000656958 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg281*) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs185741664, ExAC 0.04%). This variant has been reported in the literature in individuals with mild biochemical features of 3MCC deficiency (PMID: 22264772, 22642865). However, the second alleles were not identified in these patients. ClinVar contains an entry for this variant (Variation ID: 203795). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001275513 SCV001460698 pathogenic Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing
PerkinElmer Genomics RCV000281372 SCV002017231 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-03-12 no assertion criteria provided clinical testing

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