Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179599 | SCV000231869 | pathogenic | not provided | 2014-10-08 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671027 | SCV000795965 | pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-11-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179599 | SCV001168547 | pathogenic | not provided | 2018-08-30 | criteria provided, single submitter | clinical testing | The c.11875_11876delCA variant in the USH2A gene has been reported previously in association with Usher syndrome (Dreyer et al., 2008). The c.11875_11876delCA variant causes a frameshift starting with codon Glutamine 3959, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 53 of the new reading frame, denoted p.Gln3959AsnfsX53. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.11875_11876delCA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.11875_11876delCA as a pathogenic variant. |
Blueprint Genetics | RCV001073824 | SCV001239388 | pathogenic | Retinal dystrophy | 2018-05-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000179599 | SCV001418176 | pathogenic | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln3959Asnfs*53) 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 present in population databases (rs779791079, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features of retinal dystrophy (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 198318). For these reasons, this variant has been classified as Pathogenic. |
Ocular Genomics Institute, |
RCV001376411 | SCV001573539 | pathogenic | Retinitis pigmentosa 39 | 2021-04-08 | criteria provided, single submitter | research | The USH2A c.11875_11876del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP3. Based on this evidence we have classified this variant as Pathogenic. |
Fulgent Genetics, |
RCV000671027 | SCV002792884 | likely pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2022-03-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001376411 | SCV004182061 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001826918 | SCV004182062 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001376411 | SCV004208129 | pathogenic | Retinitis pigmentosa 39 | 2024-03-04 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000505154 | SCV000598771 | pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research | |
Natera, |
RCV001826918 | SCV002088319 | pathogenic | Usher syndrome type 2A | 2020-09-01 | no assertion criteria provided | clinical testing |