Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790807 | SCV000230189 | pathogenic | not provided | 2012-08-22 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000178176 | SCV000486580 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2016-06-27 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000178176 | SCV004198025 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2023-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000178176 | SCV004468380 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2023-05-22 | 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: 94054). This variant has not been reported in the literature in individuals affected with IVD-related conditions. This variant is present in population databases (rs398123682, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Cys136Hisfs*10) 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). |