ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.230C>G (p.Pro77Arg)

dbSNP: rs1555789213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550145 SCV000646547 uncertain significance Colorectal cancer, susceptibility to, 10 2017-03-27 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: "Benign"; 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 proline with arginine at codon 77 of the POLD1 protein (p.Pro77Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine.
Mendelics RCV002248772 SCV002519153 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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