ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3860A>C (p.Gln1287Pro)

dbSNP: rs1553700083
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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-Nilou Lab RCV001218688 SCV002553603 uncertain significance Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.