Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808800 | SCV000948922 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2021-07-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 653100). This variant has not been reported in the literature in individuals affected with IVD-related conditions. This variant is present in population databases (rs540375168, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Trp84*) in the IVD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). |