ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)

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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 RCV001896978 SCV002173964 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-02-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1402549). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Lys382_Lys383delinsPhe*) 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).
Baylor Genetics RCV001896978 SCV004194357 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-20 criteria provided, single submitter clinical testing

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