Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
INSERM U1051, |
RCV001249871 | SCV001424146 | likely pathogenic | Retinitis pigmentosa | 2020-06-24 | criteria provided, single submitter | research | |
Invitae | RCV003558761 | SCV004279835 | pathogenic | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met21Cysfs*75) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 36819107). ClinVar contains an entry for this variant (Variation ID: 973356). For these reasons, this variant has been classified as Pathogenic. |