Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041731 | SCV000065427 | pathogenic | Rare genetic deafness | 2011-12-23 | criteria provided, single submitter | clinical testing | The Gln4290X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. However, the Gln4290X variant leads to a prem ature stop codon at position 4290, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic. |
Counsyl | RCV000670430 | SCV000795281 | pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000819445 | SCV000960105 | pathogenic | not provided | 2022-08-08 | 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: 48408). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 24944099, 29625443). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln4290*) 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). |
Blueprint Genetics | RCV001074436 | SCV001240020 | pathogenic | Retinal dystrophy | 2017-02-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450771 | SCV004181939 | pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450770 | SCV004181940 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |