Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003167999 | SCV003861223 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-01-19 | criteria provided, single submitter | clinical testing | The c.264-41_264-17del25 intronic variant, located in intron 2 of the LZTR1 gene, results from a deletion of 25 nucleotides within intron 2 of the LZTR1 gene. These nucleotide positions are not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and may result in the creation or strengthening of a novel splice acceptor site; 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. |