ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1645C>A (p.Arg549Ser)

dbSNP: rs775734510
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246046 SCV001419376 uncertain significance Colorectal cancer, susceptibility to, 10 2019-11-04 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with POLD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 549 of the POLD1 protein (p.Arg549Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine.

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