ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.485G>A (p.Arg162Lys) (rs1057519750)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039570 SCV001203102 uncertain significance Familial platelet disorder with associated myeloid malignancy 2019-02-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 162 of the RUNX1 protein (p.Arg162Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RUNX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 376021). This variant has been reported to affect RUNX1 protein function (PMID: 25840971). This variant is also known as 404G>A, Arg135Lys in the literature. 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.
Database of Curated Mutations (DoCM) RCV000426735 SCV000504774 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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.