ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)

gnomAD frequency: 0.00001  dbSNP: rs774180632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044034 SCV001207808 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg188*) 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 (rs774180632, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 27033733, 31901042). ClinVar contains an entry for this variant (Variation ID: 841748). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001044034 SCV004194355 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-02-13 criteria provided, single submitter clinical testing

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