Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000772979 | SCV000906361 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000772979 | SCV002731507 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-14 | criteria provided, single submitter | clinical testing | The p.S8T variant (also known as c.23G>C), located in coding exon 1 of the PMS2 gene, results from a G to C substitution at nucleotide position 23. The amino acid change results in serine to threonine at codon 8, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 1, which makes it likely to have some effect on normal mRNA splicing. This variant has been identified in a proband(s) whose Lynch syndrome-associated tumor demonstrated loss of PMS2 expression by immunohistochemistry (Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. This amino acid position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). In addition, the in silico protein prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |