ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)

gnomAD frequency: 0.00001  dbSNP: rs1413464990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470071 SCV004194325 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003470071 SCV005834471 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln34*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with MCCC2-related conditions (PMID: 7601257). ClinVar contains an entry for this variant (Variation ID: 2676474). For these reasons, this variant has been classified as Pathogenic.

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