ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1074del (p.Trp358fs) (rs398124350)

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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 RCV000173882 SCV000225050 pathogenic not provided 2013-09-06 criteria provided, single submitter clinical testing
Invitae RCV000803322 SCV000943186 pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2018-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp358Cysfs*13) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MCCC1-related disease. ClinVar contains an entry for this variant (Variation ID: 95938). 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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