ClinVar Miner

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

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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 RCV000790695 SCV000225906 pathogenic not provided 2017-01-20 criteria provided, single submitter clinical testing
Invitae RCV000174585 SCV000835441 pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2018-03-13 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.

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