Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016971 | SCV001177984 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-09 | criteria provided, single submitter | clinical testing | The c.1007-2_1009delAGTAC variant results from a deletion of 5 nucleotides between positions c.1007-2 and c.1009 and involves the canonical splice acceptor site before coding exon 9 of the POT1 gene. The canonical splice acceptor site is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to lead to the creation of a new in-frame alternate splice acceptor site that would remove only three amino acids from the protein; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |