ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1036G>T (p.Glu346Ter)

dbSNP: rs1064796383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481688 SCV000573056 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing This variant is denoted POLD1 c.1036G>T at the cDNA level and p.Glu346Ter (E346X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAG>TAG). 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

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