Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004523607 | SCV005038267 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-09 | criteria provided, single submitter | clinical testing | The p.H1097N variant (also known as c.3289C>A), located in coding exon 14 of the MET gene, results from a C to A substitution at nucleotide position 3289. The histidine at codon 1097 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |