Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017451 | SCV001178534 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-22 | criteria provided, single submitter | clinical testing | The c.1145-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 11 in the PMS2 gene. This alteration has been reported in a study of 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry (Senter L et al. Gastroenterology, 2008 Aug;135:419-28). This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV001017451 | SCV001353140 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001414589 | SCV001616728 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-03-30 | criteria provided, single submitter | clinical testing |