ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.738+2dup

dbSNP: rs2112412775
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002042826 SCV002294720 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-04-10 criteria provided, single submitter clinical testing Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MCCC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 7 of the MCCC2 gene. It does not directly change the encoded amino acid sequence of the MCCC2 protein. It affects a nucleotide within the consensus splice site of the intron. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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