Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000667342 | SCV000791775 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2017-05-23 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000667342 | SCV002264598 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2021-05-01 | 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. 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 IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 552128). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 8 of the IVD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). |