Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004561050 | SCV005047447 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-08-10 | criteria provided, single submitter | clinical testing | The c.1943-326G>A intronic variant results from a G to A substitution 326 nucleotides upstream from coding exon 17 in the LZTR1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of novel splice donor and acceptor sites, creating a cryptic exon within the intron; 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. |