ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)

dbSNP: rs760881963
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220292 SCV001392272 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg59*) in the MCCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). This variant is present in population databases (rs760881963, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 948935). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001220292 SCV004194342 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-16 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001220292 SCV004806991 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001220292 SCV005666587 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751926 SCV005361808 likely pathogenic MCCC2-related disorder 2024-05-17 no assertion criteria provided clinical testing The MCCC2 c.175C>T variant is predicted to result in premature protein termination (p.Arg59*). To our knowledge, this variant has not been reported in the literature in individuals with diagnosis of MCCC2-deficiency. This variant is reported in 0.016% of alleles in individuals of European (Finnish) descent in gnomAD. Nonsense variants in MCCC2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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