Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001854800 | SCV002163005 | pathogenic | not provided | 2023-06-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 236461). This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 27208204). This variant is present in population databases (rs757470958, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Trp83*) in the CNGA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGA3 are known to be pathogenic (PMID: 14757870, 24903488, 25637600). |
Gene |
RCV001854800 | SCV003761928 | pathogenic | not provided | 2022-07-30 | criteria provided, single submitter | clinical testing | Identified in a patient with retinal dystrophy in the published literature (Ellingford et al., 2016); 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30711023, 27208204) |
Centre for Genomic Medicine, |
RCV000225523 | SCV000282567 | likely pathogenic | Retinal dystrophy | no assertion criteria provided | clinical testing |