Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625304 | SCV000744784 | uncertain significance | Retinitis pigmentosa 26 | 2015-11-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002531917 | SCV003524834 | uncertain significance | not provided | 2021-09-28 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with arginine at codon 122 of the CERKL protein (p.Leu122Arg). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 27898983). ClinVar contains an entry for this variant (Variation ID: 522299). 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: "Tolerated"; 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. |