Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624575 | SCV000742261 | uncertain significance | Inborn genetic diseases | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001218688 | SCV001390583 | uncertain significance | Luscan-Lumish syndrome | 2019-06-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with proline at codon 1287 of the SETD2 protein (p.Gln1287Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SETD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 521605). 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. |
Genome- |
RCV001218688 | SCV002553603 | uncertain significance | Luscan-Lumish syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing |