Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001019929 | SCV001181345 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-02 | criteria provided, single submitter | clinical testing | The p.E1106K variant (also known as c.3316G>A), located in coding exon 21 of the RAD50 gene, results from a G to A substitution at nucleotide position 3316. The glutamic acid at codon 1106 is replaced by lysine, an amino acid with 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478641 | SCV004220101 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |