ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3361G>A (p.Asp1121Asn) (rs377390897)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460340 SCV000546012 uncertain significance Baller-Gerold syndrome 2018-12-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1121 of the RECQL4 protein (p.Asp1121Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs377390897, ExAC 0.03%). This variant has been reported in an individual affected with osteosarcoma, and a family history of breast, lung and prostate cancer (PMID: 27352193). ClinVar contains an entry for this variant (Variation ID: 407036). 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, but these predictions have not been confirmed by published functional studies. 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.

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.