Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020539 | SCV001182032 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-23 | criteria provided, single submitter | clinical testing | The c.353+5T>C intronic variant results from a T to C substitution 5 nucleotides after coding exon 4 in the PMS2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |