Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000215752 | SCV000277460 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-27 | criteria provided, single submitter | clinical testing | The p.S2373R variant (also known as c.7119C>G), located in coding exon 13 of the BRCA2 gene, results from a C to G substitution at nucleotide position 7119. The serine at codon 2373 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477755 | SCV004220544 | uncertain significance | not provided | 2023-07-20 | criteria provided, single submitter | clinical testing | In the published literature, this variant has been identified in a study of BRCA1 and BRCA2 regions without essential functions that tolerate variation (PMID: 31911673 (2020)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, 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 conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. |