ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) (rs750484977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255554 SCV000321872 pathogenic not provided 2018-05-11 criteria provided, single submitter clinical testing The S327X nonsense variant in the MCCC1 gene has been reported previously in an individual with 3-MCC deficiency who was also heterozygous for another pathogenic variant in the MCCC1 gene (Grunert et al., 2012). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000705149 SCV000834134 pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2018-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser327*) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs750484977, ExAC 0.006%). This variant has been reported in combination with another MCCC1 variant in an individual affected with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 22642865). ClinVar contains an entry for this variant (Variation ID: 265231). 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.

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