Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464467 | SCV000547570 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2020-05-15 | 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: "Probably Damaging"; 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 glutamine with histidine at codon 336 of the POLD1 protein (p.Gln336His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. |
Ambry Genetics | RCV001009682 | SCV001169780 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-03 | criteria provided, single submitter | clinical testing | The p.Q336H variant (also known as c.1008G>T), located in coding exon 8 of the POLD1 gene, results from a G to T substitution at nucleotide position 1008. The glutamine at codon 336 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is 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. |
Baylor Genetics | RCV000464467 | SCV004203453 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2023-10-06 | criteria provided, single submitter | clinical testing |