ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.129G>A (p.Gln43=)

dbSNP: rs1580262388
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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 RCV000818681 SCV000959307 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-02-03 criteria provided, single submitter clinical testing 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. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 661294). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 43 of the MCCC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MCCC2 protein. This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon.

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