Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073466 | SCV001239008 | likely pathogenic | Retinal dystrophy | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002554663 | SCV003202694 | pathogenic | not provided | 2023-03-26 | 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: 865899). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is present in population databases (rs762070900, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr3779Leufs*5) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). |
Genome- |
RCV003455320 | SCV004182116 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing |