ClinVar Miner

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

dbSNP: rs398124350
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173882 SCV000225050 pathogenic not provided 2013-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000803322 SCV000943186 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-09-23 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. Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). This variant is present in population databases (rs398124350, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 95938). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000803322 SCV004194266 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-03-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000803322 SCV004238278 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-02-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000803322 SCV005661959 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-03-06 criteria provided, single submitter clinical testing

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