Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688089 | SCV000815686 | uncertain significance | Luscan-Lumish syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with asparagine at codon 2015 of the SETD2 protein (p.Ser2015Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SETD2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
New York Genome Center | RCV000688089 | SCV002506950 | uncertain significance | Luscan-Lumish syndrome | 2021-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000688089 | SCV002555397 | uncertain significance | Luscan-Lumish syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003140085 | SCV003819426 | uncertain significance | not provided | 2019-10-24 | criteria provided, single submitter | clinical testing |