Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003065544 | SCV003458864 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-07-06 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs763079462, gnomAD 0.003%). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 C0"). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1206 of the RPGRIP1 protein (p.His1206Leu). |