Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001312540 | SCV001502998 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 4121 of the USH2A protein (p.Arg4121Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs772357461, ExAC 0.002%). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 31054281). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |
Gene |
RCV001312540 | SCV004168525 | uncertain significance | not provided | 2023-04-28 | criteria provided, single submitter | clinical testing | Identified in a patient with an inherited retinal disease who also harbored p.(R4121C) and p.(R1946*) phase unknown in published literature (Zhu et al., 2020); Identified in a patient with an inherited retinal disease who also harbored p.(V4374E) phase unknown in published literature (Gao et al., 2020); Identified in a cohort of patients with suspected inherited retinal disease in published literature (Gao et al., 2019); 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: 32675063, 32188678, 31054281) |
Genome- |
RCV003449892 | SCV004182008 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001835527 | SCV004182009 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001835527 | SCV002088308 | uncertain significance | Usher syndrome type 2A | 2020-04-22 | no assertion criteria provided | clinical testing |