Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002382866 | SCV002691045 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-08-20 | criteria provided, single submitter | clinical testing | The c.993+4A>T intronic variant results from an A to T substitution 4 nucleotides after coding exon 9 in the LZTR1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |