Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555769 | SCV000631892 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro294Alafs*38) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with isovaleric acidemia (PMID: 10677295). This variant is also known as iG870. ClinVar contains an entry for this variant (Variation ID: 459932). Studies have shown that this premature translational stop signal alters IVD gene expression (PMID: 10677295). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000555769 | SCV001163387 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | criteria provided, single submitter | clinical testing | ||
Counsyl | RCV000555769 | SCV001132238 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2015-03-17 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000555769 | SCV002094405 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2017-11-11 | no assertion criteria provided | clinical testing |