Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001783635 | SCV002017232 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001783635 | SCV004194367 | likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001783635 | SCV004293738 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2023-03-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1323271). This premature translational stop signal has been observed in individual(s) with clinical features of MCCC2-related conditions (PMID: 16010683). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln43*) in the MCCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). |
Center for Genomic Medicine, |
RCV001783635 | SCV004807766 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-03-29 | criteria provided, single submitter | clinical testing |