ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.129+3A>G

gnomAD frequency: 0.00002  dbSNP: rs1352606118
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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 RCV001312292 SCV001502739 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-09-27 criteria provided, single submitter clinical testing 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. 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: 1013669). This variant has been observed in individuals with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 30626930; Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 1 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.
Natera, Inc. RCV001312292 SCV002084281 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-12-08 no assertion criteria provided clinical testing

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