Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
All of Us Research Program, |
RCV004013817 | SCV004825815 | uncertain significance | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004371974 | SCV005032894 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-10 | criteria provided, single submitter | clinical testing | The p.V1260I variant (also known as c.3778G>A), located in coding exon 8 of the MSH6 gene, results from a G to A substitution at nucleotide position 3778. The valine at codon 1260 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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. |