Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075750 | SCV001241380 | pathogenic | Retinal dystrophy | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002555917 | SCV003523482 | pathogenic | not provided | 2022-06-19 | 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: 867169). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 22004887). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 59 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). |
Genome- |
RCV003446615 | SCV004173932 | pathogenic | Retinitis pigmentosa 39 | 2023-04-11 | criteria provided, single submitter | clinical testing |