ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)

gnomAD frequency: 0.00001  dbSNP: rs764286389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001420154 SCV001622418 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001420154 SCV002240362 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln198*) 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 (rs764286389, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase (PMID: 17968484). ClinVar contains an entry for this variant (Variation ID: 1098284). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001420154 SCV004194346 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-12-17 criteria provided, single submitter clinical testing

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