Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216340 | SCV001388132 | pathogenic | not provided | 2023-01-14 | 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: 48621). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is present in population databases (rs397518046, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln3102*) 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). |
DBGen Ocular Genomics | RCV001588862 | SCV001816028 | pathogenic | Retinitis pigmentosa 39 | 2021-06-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001588862 | SCV004182716 | pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000041947 | SCV000065643 | pathogenic | Rare genetic deafness | 2013-03-11 | no assertion criteria provided | clinical testing | The Gln3102X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. This nonsense variant leads to a premature te rmination codon at position 3102, which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets our criteria to be classified as p athogenic (http://pcpgm.partners.org/LMM). |