Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022744 | SCV001184514 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-23 | criteria provided, single submitter | clinical testing | The p.S153F variant (also known as c.458C>T), located in coding exon 3 of the MSH2 gene, results from a C to T substitution at nucleotide position 458. The serine at codon 153 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not 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. |
Invitae | RCV001066450 | SCV001231461 | benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-09 | criteria provided, single submitter | clinical testing |