Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221114 | SCV001393138 | pathogenic | not provided | 2021-02-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys797*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in several individuals affected with Usher syndrome (PMID: 24944099). ClinVar contains an entry for this variant (Variation ID: 949618). This variant is not present in population databases (ExAC no frequency). |
Gene |
RCV001221114 | SCV002577006 | pathogenic | not provided | 2022-03-30 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed with an USH2A variant on the opposite allele in patients with Usher syndrome in published literature (Baux et al., 2014); This variant is associated with the following publications: (PMID: 24944099) |
Genome- |
RCV003449696 | SCV004182436 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003473776 | SCV004200755 | pathogenic | Retinitis pigmentosa 39 | 2023-04-01 | criteria provided, single submitter | clinical testing |