Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000131295 | SCV000186267 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-13 | criteria provided, single submitter | clinical testing | The p.S536N variant (also known as c.1607G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 1607. The serine at codon 536 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species and asparagine is the reference amino acid in several other 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 | RCV000693545 | SCV000821418 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000131295 | SCV000908377 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-25 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998099 | SCV004839584 | uncertain significance | Lynch syndrome | 2023-05-31 | criteria provided, single submitter | clinical testing |