Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413831 | SCV000492234 | pathogenic | not provided | 2016-11-23 | criteria provided, single submitter | clinical testing | The R81X nonsense variant in the IVD gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, it is interpreted to be a pathogenic variant. |
Baylor Genetics | RCV000410639 | SCV001163381 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000410639 | SCV001396226 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg81*) 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 present in population databases (rs765815516, gnomAD 0.003%). 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: 370807). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000410639 | SCV000486216 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2016-04-20 | no assertion criteria provided | clinical testing |