ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.758+5G>A

gnomAD frequency: 0.00003  dbSNP: rs760003191
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227281 SCV000287649 likely benign Colorectal cancer, susceptibility to, 10 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529396 SCV000806555 likely benign POLD1-related disorder 2023-10-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679525 SCV000888479 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826021 SCV000967510 uncertain significance not specified 2018-10-19 criteria provided, single submitter clinical testing The c.758+5G>A variant in POLD1 has not been previously reported in the literatu re in individuals with hereditary colorectal cancer but has been reported by oth er clinical laboratories in ClinVar (Variation ID: 239367). It has also been ide ntified in 3/23884 African chromosomes by gnomAD (http://gnomad.broadinstitute.o rg). This variant is located in the 5' splice region. Computational tools sugges t a possible impact to splicing. However, this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the c.7 58+5G>A variant is uncertain. ACMG/AMP Criteria applied: PP3.
Ambry Genetics RCV001026588 SCV001188999 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing The c.758+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 5 in the POLD1 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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