ClinVar Miner

Submissions for variant NM_001256849.1(POLD1):c.2953+12C>T (rs3218776)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244063 SCV000309126 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244063 SCV000517988 benign not specified 2015-11-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000244063 SCV000540077 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Integrated Genetics/Laboratory Corporation of America RCV000587096 SCV000698002 benign not provided 2016-05-19 criteria provided, single submitter clinical testing Variant summary: The POLD1 c.2953+12C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant, and 5/5 Alamut algorithms predict not significant change to splicing. This variant was found in 13998/24162 control chromosomes (4157 homozygotes) at a frequency of 0.5793395, which is approximately 40785 times the estimated maximal expected allele frequency of a pathogenic POLD1 variant (0.0000142), highly suggesting this variant is a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Benign.

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.