Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461195 | SCV000547498 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2024-01-23 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 44 of the POLD1 protein (p.Met44Ile). This variant is present in population databases (rs757575448, gnomAD 0.006%). This missense change has been observed in individual(s) with colon cancer (PMID: 28125075). ClinVar contains an entry for this variant (Variation ID: 407954). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Mendelics | RCV000461195 | SCV001141124 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577011 | SCV001804319 | uncertain significance | not provided | 2023-06-05 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with colon cancer (Ghazani et al., 2017); This variant is associated with the following publications: (PMID: 28125075) |
Center for Genomic Medicine, |
RCV003493578 | SCV004242967 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |