Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001320979 | SCV001511791 | uncertain significance | not provided | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 4089 of the USH2A protein (p.Glu4089Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with the clinical features of Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 1021246). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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. |
| Natera, |
RCV001835608 | SCV002088315 | uncertain significance | Usher syndrome type 2A | 2021-07-29 | no assertion criteria provided | clinical testing |