ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.997C>T (p.Pro333Ser)

dbSNP: rs1601204099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824199 SCV000965086 uncertain significance Colorectal cancer, susceptibility to, 10 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 333 of the POLD1 protein (p.Pro333Ser). 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 affected with POLD1-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800893 SCV002047029 uncertain significance not provided 2021-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381884 SCV002695262 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-31 criteria provided, single submitter clinical testing The p.P333S variant (also known as c.997C>T), located in coding exon 8 of the POLD1 gene, results from a C to T substitution at nucleotide position 997. The proline at codon 333 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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