Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000487156 | SCV000572780 | uncertain significance | not provided | 2017-01-19 | criteria provided, single submitter | clinical testing | This variant is denoted PMS2 c.164-13_164-12delTT or IVS2-13_IVS2-12delTT and consists of a deletion of two nucleotides at the -12 to -13 position in intron 2 of the PMS2 gene. The normal sequence with the bases that are deleted in brackets is tatt[deltt]aaac. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Multiple in silico models predict this variant to damage the nearby natural acceptor site and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. PMS2 c.164-13_164-12delTT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotides that are deleted are not conserved across species. Based on currently available information, it is unclear whether PMS2 c.164-13_164-12delTT is pathogenic or benign. We consider it to be a variant of uncertain significance. |
| Labcorp Genetics |
RCV005090970 | SCV005839345 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-10-29 | criteria provided, single submitter | clinical testing |