ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.805C>G (p.Pro269Ala)

dbSNP: rs1173910214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809138 SCV000949279 uncertain significance Colorectal cancer, susceptibility to, 10 2020-02-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 proline with alanine at codon 269 of the POLD1 protein (p.Pro269Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.
GeneDx RCV002537305 SCV003194914 uncertain significance not provided 2022-07-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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