ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2938_2948dup (p.Leu984fs)

dbSNP: rs1555793355
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
Ambry Genetics RCV000568586 SCV000671150 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-22 criteria provided, single submitter clinical testing The c.2938_2948dupGAGGCTGTGCT variant, located in coding exon 22 of the POLD1 gene, results from a duplication of GAGGCTGTGCT at nucleotide position 2938, causing a translational frameshift with a predicted alternate stop codon. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms(dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6347 samples (12694 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 80000 alleles tested) in our clinical cohort. As neither this specific alteration nor loss of function as a mechanism of pathogenicity have been well-described in the POLD1 gene, the clinical significance of this variant remains unknown (ACMG Standards and guidelines for the interpretation of sequence variants. Genet Med. 2015 May;17(5):405-23).

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.