Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571851 | SCV000663453 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-01-10 | criteria provided, single submitter | clinical testing | The p.K301T variant (also known as c.902A>C), located in coding exon 8 of the PMS2 gene, results from an A to C substitution at nucleotide position 902. The lysine at codon 301 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. 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. |