Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004144 | SCV001162878 | pathogenic | Usher syndrome type 2A | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001383730 | SCV001582983 | pathogenic | not provided | 2023-09-25 | 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: 813344). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 24944099, 30029497, 30337596). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp3918*) 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). |
Fulgent Genetics, |
RCV002489513 | SCV002802618 | pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2021-12-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003455060 | SCV004182073 | pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001004144 | SCV004182074 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001004144 | SCV002088322 | pathogenic | Usher syndrome type 2A | 2020-04-07 | no assertion criteria provided | clinical testing |