Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228843 | SCV001401264 | pathogenic | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2307Hisfs*25) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25649381). ClinVar contains an entry for this variant (Variation ID: 956100). For these reasons, this variant has been classified as Pathogenic. |
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV003389489 | SCV003927110 | pathogenic | Usher syndrome | 2022-12-31 | criteria provided, single submitter | research | |
Genome- |
RCV003449720 | SCV004181593 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003462781 | SCV004208153 | pathogenic | Retinitis pigmentosa 39 | 2023-10-19 | criteria provided, single submitter | clinical testing |