ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.901del (p.Glu301fs)

dbSNP: rs1555790257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645776 SCV000767531 uncertain significance Colorectal cancer, susceptibility to, 10 2020-11-16 criteria provided, single submitter clinical testing Missense variants that disrupt the 3'-5' exonuclease (proof-reading) activity of the POLD1 protein, while not abolishing its polymerase enzyme activity, are associated with an increased risk for colonic adenomatous polyps and colon cancer (PMID: 23263490, 23447401). Loss-of-function truncating variants, which result in an absent or severely disrupted POLD1 protein, are therefore unlikely to be associated with disease. Without further clinical and genetic evidence, however, this variant has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with POLD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu301Lysfs*92) in the POLD1 gene. It is expected to result in an absent or disrupted protein product.

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