Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040036 | SCV001203591 | uncertain significance | Luscan-Lumish syndrome | 2019-03-25 | criteria provided, single submitter | clinical testing | This variant has been observed to be de novo in an individual affected with autism spectrum disorder, in whom a second de novo variant in a different gene was also observed (PMID: 27455002). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 2299 of the SETD2 protein (p.Gly2299Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. 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. |