Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667571 | SCV000792048 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-06-08 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001100918 | SCV001257464 | uncertain significance | Usher syndrome type 2A | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001003275 | SCV001257465 | uncertain significance | Retinitis pigmentosa | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV001592848 | SCV001815114 | uncertain significance | not provided | 2020-04-21 | criteria provided, single submitter | clinical testing | Observed in patients with Usher syndrome or retinitis pigmentosa in published literature; however, no specific patient information was provided and Licastro et al. reported no second USH2A variant in the published patient (Seyedahmadi et al., 2004; Licastro et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31456290, 20507924, 22952768, 15325563) |
Labcorp Genetics |
RCV001592848 | SCV003268204 | uncertain significance | not provided | 2024-09-03 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1059 of the USH2A protein (p.Pro1059Leu). This variant is present in population databases (rs547581739, gnomAD 0.02%). This missense change has been observed in individual(s) with Usher syndrome and/or retinitis pigmentosa (PMID: 15325563, 22952768, 31456290). ClinVar contains an entry for this variant (Variation ID: 552332). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt USH2A protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV003451659 | SCV004182367 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001100918 | SCV004182368 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV004817878 | SCV005073337 | uncertain significance | Retinal dystrophy | 2023-01-01 | criteria provided, single submitter | clinical testing | |
Sharon lab, |
RCV001003275 | SCV001161358 | likely pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research | |
Natera, |
RCV001100918 | SCV002093938 | uncertain significance | Usher syndrome type 2A | 2020-01-20 | no assertion criteria provided | clinical testing |