Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003120523 | SCV003795859 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2022-06-19 | 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 991026). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. This variant is present in population databases (rs751519858, gnomAD 0.006%). This sequence change falls in intron 2 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, |
RCV001279163 | SCV001466245 | uncertain significance | Methylcrotonyl-CoA carboxylase deficiency | 2020-08-16 | no assertion criteria provided | clinical testing |