Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387464 | SCV001588081 | pathogenic | not provided | 2022-01-15 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 10 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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. Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 20497194). ClinVar contains an entry for this variant (Variation ID: 1074239). Disruption of this splice site has been observed in individual(s) with USH2A-related conditions (PMID: 12525556). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). |
Baylor Genetics | RCV003469733 | SCV004208349 | likely pathogenic | Retinitis pigmentosa 39 | 2023-08-07 | criteria provided, single submitter | clinical testing |