Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070700 | SCV001235967 | pathogenic | not provided | 2023-10-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly1645*) 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: 26969326, 27460420). ClinVar contains an entry for this variant (Variation ID: 863680). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001070700 | SCV001248852 | pathogenic | not provided | 2017-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003455300 | SCV004181866 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |