Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001200527 | SCV001371513 | uncertain significance | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411734 | SCV002717319 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-18 | criteria provided, single submitter | clinical testing | The p.S601P variant (also known as c.1801T>C), located in coding exon 11 of the PMS2 gene, results from a T to C substitution at nucleotide position 1801. The serine at codon 601 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. |