ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.383+2del

gnomAD frequency: 0.00001  dbSNP: rs1745349463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007634 SCV002260217 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-08-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects a splice site in intron 4 of the MCCC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). This variant is not present in population databases (gnomAD no frequency). 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: 1474479). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV002007634 SCV003833921 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-02-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV002007634 SCV004194372 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-05-04 criteria provided, single submitter clinical testing

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