ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2795dup (p.Val933fs)

dbSNP: rs1211000727
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
GeneDx RCV000657417 SCV000779152 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing This duplication of one nucleotide in POLD1 is denoted c.2795dupG at the cDNA level and p.Val933CysfsX21 (V933CfsX21) at the protein level. The normal sequence, with the base that is duplciated in brackets, is AAGG[dupG]TGTG. The deletion causes a frameshift which changes a Valine to a Cysteine at codon 933, and creates a premature stop codon at position 21 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. While some missense variants in POLD1 have been recognized as an underlying cause of Polymerase Proofreading-Associated Polyposis (PPAP), there are no data at this time to support that loss-of-function variants confer the same cancer risks. We therefore consider this variant to be of uncertain significance with respect to cancer.

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.