Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528345 | SCV000655760 | uncertain significance | Luscan-Lumish syndrome | 2017-03-08 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 2081 of the SETD2 protein (p.Leu2081Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SETD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001770481 | SCV001994687 | uncertain significance | not provided | 2019-04-04 | 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000528345 | SCV002555364 | uncertain significance | Luscan-Lumish syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing |