Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152604 | SCV000201899 | pathogenic | Rare genetic deafness | 2010-04-08 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Ocular Genomics Institute, |
RCV001376394 | SCV001573515 | likely pathogenic | Retinitis pigmentosa 39 | 2021-04-08 | criteria provided, single submitter | research | The USH2A c.6398G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. |
Genome- |
RCV001376394 | SCV004181666 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453130 | SCV004181667 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003688831 | SCV004429989 | pathogenic | not provided | 2023-01-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 166484). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 25425308, 33105608). This variant is present in population databases (rs727503725, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Trp2133*) 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). |