Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002448156 | SCV002733561 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-07-19 | criteria provided, single submitter | clinical testing | The c.2326-5T>G intronic variant results from a T to G substitution 5 nucleotides upstream from coding exon 20 in the LZTR1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |