Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060066 | SCV001224727 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2019-01-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). This variant has not been reported in the literature in individuals with IVD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro294Leufs*18) in the IVD gene. It is expected to result in an absent or disrupted protein product. |