Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235448 | SCV001408134 | pathogenic | not provided | 2023-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu3699*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 24944099). ClinVar contains an entry for this variant (Variation ID: 961710). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV002246225 | SCV002519945 | pathogenic | Usher syndrome type 2A | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002246225 | SCV004182141 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |