Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000264474 | SCV000330167 | pathogenic | not provided | 2017-12-05 | criteria provided, single submitter | clinical testing | This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this variant has not been previously reported to our knowledge, we consider it to the pathogenic. |
Blueprint Genetics | RCV001073771 | SCV001239331 | likely pathogenic | Retinal dystrophy | 2017-12-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000264474 | SCV001246997 | pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000264474 | SCV001586718 | pathogenic | not provided | 2023-12-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn2651Glnfs*10) 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 Usher syndrome or retinitis pigmentosa (PMID: 26927203). ClinVar contains an entry for this variant (Variation ID: 280266). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV002287402 | SCV002578084 | pathogenic | See cases | 2021-08-02 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2,PP5 |
Genome- |
RCV000678656 | SCV004183188 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000678656 | SCV004208335 | pathogenic | Retinitis pigmentosa 39 | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000678656 | SCV000804747 | pathogenic | Retinitis pigmentosa 39 | 2016-09-01 | no assertion criteria provided | clinical testing | |
Counsyl | RCV000984233 | SCV001132310 | pathogenic | Usher syndrome type 2A | 2017-03-09 | no assertion criteria provided | clinical testing | |
Counsyl | RCV000678656 | SCV001132311 | pathogenic | Retinitis pigmentosa 39 | 2017-03-09 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000984233 | SCV001458117 | pathogenic | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |