Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513606 | SCV000608766 | pathogenic | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001199467 | SCV001162476 | pathogenic | Retinitis pigmentosa | 2020-01-09 | criteria provided, single submitter | research | |
Invitae | RCV000513606 | SCV001402599 | pathogenic | not provided | 2023-01-15 | 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: 444372). This premature translational stop signal has been observed in individual(s) with rod-cone dystrophy (PMID: 33847019). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ile956Thrfs*15) in the CNGB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB1 are known to be pathogenic (PMID: 15557452, 24043777). |