Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017163 | SCV001178199 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-04 | criteria provided, single submitter | clinical testing | The p.P362L variant (also known as c.1085C>T), located in coding exon 8 of the POLD1 gene, results from a C to T substitution at nucleotide position 1085. The proline at codon 362 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
Invitae | RCV001069703 | SCV001234892 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2022-03-24 | 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 822092). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 362 of the POLD1 protein (p.Pro362Leu). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284036 | SCV001469609 | uncertain significance | not provided | 2020-07-21 | criteria provided, single submitter | clinical testing |