ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2345T>C (p.Val782Ala)

dbSNP: rs1060501846
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475864 SCV000547643 uncertain significance Colorectal cancer, susceptibility to, 10 2016-10-14 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a POLD1-related disease. This sequence change replaces valine with alanine at codon 782 of the POLD1 protein (p.Val782Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.

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