ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)

gnomAD frequency: 0.00001  dbSNP: rs751393852
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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 RCV001231606 SCV001404134 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu355*) 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 (rs751393852, gnomAD 0.002%). 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: 958438). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001231606 SCV004194343 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-30 criteria provided, single submitter clinical testing

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