Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kariminejad - |
RCV001836911 | SCV000999245 | pathogenic | Abnormality of the nervous system | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001823171 | SCV002072716 | pathogenic | not provided | 2022-01-17 | criteria provided, single submitter | clinical testing | 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; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28940097, 32434006) |
Invitae | RCV001823171 | SCV004295949 | pathogenic | not provided | 2023-12-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg929*) in the TRAPPC9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRAPPC9 are known to be pathogenic (PMID: 2000476, 20004763, 20004764). This variant is present in population databases (rs373701249, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with intellectual disability (PMID: 28940097). ClinVar contains an entry for this variant (Variation ID: 694658). For these reasons, this variant has been classified as Pathogenic. |