Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169373 | SCV000220751 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2014-09-30 | criteria provided, single submitter | literature only | |
Eurofins Ntd Llc |
RCV000726298 | SCV000343519 | likely pathogenic | not provided | 2016-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000169373 | SCV000819904 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu397Phefs*9) in the IVD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the IVD protein. This variant is present in population databases (rs753807321, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with IVA (PMID: 2063866). ClinVar contains an entry for this variant (Variation ID: 188993). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects IVD function (PMID: 10713113). This variant disrupts a region of the IVD protein in which other variant(s) (p.Glu411Lys) have been observed in individuals with IVD-related conditions (PMID: 22960500). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000169373 | SCV001163390 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | criteria provided, single submitter | clinical testing | ||
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000169373 | SCV003932292 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2023-02-05 | criteria provided, single submitter | clinical testing | PVS1, PS3, PM2, PM3, PP4 |
OMIM | RCV002284192 | SCV000023910 | pathogenic | Isovaleric acidemia, type III | 1991-07-01 | no assertion criteria provided | literature only |