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 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). 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 variant has not been reported in the literature in individuals affected with MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1402549). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001896978 SCV004194357 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-20 criteria provided, single submitter clinical testing

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