Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760783 | SCV000890678 | pathogenic | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31589614) |
Invitae | RCV001387584 | SCV001588253 | pathogenic | 3-Methylglutaconic aciduria type 3; Optic atrophy 3 | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln18*) in the OPA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPA3 are known to be pathogenic (PMID: 11668429, 25201222). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OPA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 620409). For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV001272532 | SCV001454622 | likely pathogenic | 3-Methylglutaconic aciduria type 3 | 2020-09-16 | no assertion criteria provided | clinical testing |