Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000565652 | SCV000672486 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-05-25 | criteria provided, single submitter | clinical testing | The p.L1204V variant (also known as c.3610C>G), located in coding exon 23 of the ALK gene, results from a C to G substitution at nucleotide position 3610. The leucine at codon 1204 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |