Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004561218 | SCV005048037 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2024-01-29 | criteria provided, single submitter | clinical testing | The p.P269A variant (also known as c.805C>G), located in coding exon 9 of the LZTR1 gene, results from a C to G substitution at nucleotide position 805. The proline at codon 269 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |