ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.481A>T (p.Met161Leu)

gnomAD frequency: 0.00002  dbSNP: rs763969133
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
Invitae RCV000471753 SCV000547654 uncertain significance Colorectal cancer, susceptibility to, 10 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 161 of the POLD1 protein (p.Met161Leu). This variant is present in population databases (rs763969133, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 408101). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POLD1 protein function with a negative predictive value of 80%. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759242 SCV000888466 uncertain significance not provided 2018-01-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000679002 SCV000805291 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-09 no assertion criteria provided 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.