ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1526del (p.Cys509fs) (rs727504002)

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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 RCV000790695 SCV000225906 pathogenic not provided 2017-01-20 criteria provided, single submitter clinical testing
Invitae RCV000174585 SCV000835441 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-05-14 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in several individuals affected with methylcrotonyl-CoA carboxylase deficiency (PMID: 16010683, 22642865). ClinVar contains an entry for this variant (Variation ID: 167269). 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.
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)
Natera, Inc. RCV001273492 SCV001456579 pathogenic Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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