Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546725 | SCV000631877 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala131Profs*26) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 459924). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000546725 | SCV004198049 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2023-01-06 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000546725 | SCV001132237 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2014-10-20 | no assertion criteria provided | clinical testing |