Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566160 | SCV000670007 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-28 | criteria provided, single submitter | clinical testing | The p.S330P variant (also known as c.988T>C), located in coding exon 4 of the MSH6 gene, results from a T to C substitution at nucleotide position 988. The serine at codon 330 is replaced by proline, an amino acid with 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. |
Invitae | RCV001055886 | SCV001220300 | benign | Hereditary nonpolyposis colorectal neoplasms | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003332204 | SCV004039812 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21437237) |
All of Us Research Program, |
RCV004001058 | SCV004838927 | uncertain significance | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |