Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552615 | SCV000639908 | uncertain significance | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2020-01-20 | 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: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with SRPX2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 102 of the SRPX2 protein (p.Ser102Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. |
Fulgent Genetics, |
RCV000552615 | SCV002786747 | uncertain significance | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2022-04-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000552615 | SCV003835564 | uncertain significance | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2022-09-28 | criteria provided, single submitter | clinical testing |