Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001384296 | SCV001583748 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-07-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu458*) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071757). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is present in population databases (rs776941281, gnomAD 0.003%). |
| Gene |
RCV001562284 | SCV001785023 | likely pathogenic | not provided | 2020-07-02 | 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 (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
| Revvity Omics, |
RCV001562284 | SCV002019894 | pathogenic | not provided | 2020-10-30 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002476726 | SCV002795085 | likely pathogenic | Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 | 2022-04-11 | criteria provided, single submitter | clinical testing |