Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671172 | SCV000796123 | likely pathogenic | Usher syndrome, type 2A; Retinitis pigmentosa 39 | 2017-12-07 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986535 | SCV001135552 | pathogenic | Usher syndrome, type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001060498 | SCV001225191 | pathogenic | not provided | 2019-01-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp1760Metfs*10) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754374132, ExAC 0.02%). This variant has been observed in individuals affected with USH2A-related conditions (PMID: 22004887, 25404053, 26969326). ClinVar contains an entry for this variant (Variation ID: 555362). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001073368 | SCV001238909 | pathogenic | Retinal dystrophy | 2019-01-04 | criteria provided, single submitter | clinical testing |