Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173304 | SCV000224403 | likely pathogenic | not provided | 2014-04-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000173304 | SCV001997299 | uncertain significance | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001850087 | SCV002278418 | uncertain significance | Intellectual disability, CASK-related, X-linked | 2020-12-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CASK-related conditions. ClinVar contains an entry for this variant (Variation ID: 166796). This sequence change replaces glycine with arginine at codon 19 of the CASK protein (p.Gly19Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. |