Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056600 | SCV001221050 | uncertain significance | not provided | 2021-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with glutamic acid at codon 4718 of the USH2A protein (p.Ala4718Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 852059). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002482016 | SCV002792904 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2021-07-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003455255 | SCV004183098 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001276151 | SCV004183099 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276151 | SCV001462005 | uncertain significance | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |