ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)

dbSNP: rs752593298
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237425 SCV001410184 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu61*) 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 (rs752593298, gnomAD 0.02%). 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: 963404). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001237425 SCV002017237 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-10-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV001237425 SCV005060783 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782680 SCV005394985 pathogenic Methylcrotonyl-CoA carboxylase deficiency 2024-09-10 criteria provided, single submitter clinical testing Variant summary: MCCC2 c.181G>T (p.Glu61X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 251314 control chromosomes. To our knowledge, no occurrence of c.181G>T in individuals affected with Methylcrotonyl-CoA Carboxylase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 963404). Based on the evidence outlined above, the variant was classified as pathogenic.

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