ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1789C>T (p.Pro597Ser)

dbSNP: rs2038989534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058916 SCV001223515 uncertain significance Colorectal cancer, susceptibility to, 10 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 597 of the POLD1 protein (p.Pro597Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001772278 SCV002002514 uncertain significance not provided 2021-01-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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