Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074555 | SCV001240146 | uncertain significance | Retinal dystrophy | 2018-12-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001862832 | SCV002224125 | uncertain significance | not provided | 2021-09-07 | criteria provided, single submitter | clinical testing | 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. 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"). ClinVar contains an entry for this variant (Variation ID: 866503). This missense change has been observed in individual(s) with clinical features of autosomal recessive retinitis pigmentosa (Invitae). This variant is present in population databases (rs757841530, ExAC 0.01%). This sequence change replaces methionine with arginine at codon 2707 of the EYS protein (p.Met2707Arg). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and arginine. |