Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000997613 | SCV001153217 | uncertain significance | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000997613 | SCV001421008 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 526 of the CERKL protein (p.Asp526Asn). This variant is present in population databases (rs771072583, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CERKL-related conditions. ClinVar contains an entry for this variant (Variation ID: 809116). 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: "Probably 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. |
Natera, |
RCV001836058 | SCV002077931 | uncertain significance | Retinitis pigmentosa 26 | 2020-02-21 | no assertion criteria provided | clinical testing |