Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000417380 | SCV000111885 | uncertain significance | not provided | 2013-04-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000417380 | SCV000238935 | uncertain significance | not provided | 2023-09-20 | criteria provided, single submitter | clinical testing | Reported in a cohort of individuals with inborn errors of metabolism (Adhikari AN et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.(D327N) and p.(D356N); This variant is associated with the following publications: (PMID: 32778825) |
Invitae | RCV000557255 | SCV000631881 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 359 of the IVD protein (p.Asp359Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of isovaleric acidemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 94050). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Mayo Clinic Laboratories, |
RCV000417380 | SCV002541245 | uncertain significance | not provided | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000557255 | SCV004198044 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2023-01-30 | criteria provided, single submitter | clinical testing |