Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041669 | SCV000065365 | likely pathogenic | Rare genetic deafness | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000670189 | SCV000795018 | pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000802347 | SCV000942173 | pathogenic | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18273898, 23737954, 25558175, 29142287). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 48348). This variant is present in population databases (rs111033379, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg3484*) 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). |
Centre for Inherited Metabolic Diseases, |
RCV001353056 | SCV001548180 | pathogenic | Usher syndrome type 2A | 2021-03-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000802347 | SCV001793585 | pathogenic | not provided | 2020-12-30 | 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 a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33576794, 31589614, 28559085, 23737954, 25558175, 25525159, 18273898) |
Genome- |
RCV003450731 | SCV004182559 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001353056 | SCV004182560 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003450731 | SCV004208169 | pathogenic | Retinitis pigmentosa 39 | 2023-10-16 | criteria provided, single submitter | clinical testing |