Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002450958 | SCV002615735 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-09-09 | criteria provided, single submitter | clinical testing | The p.D1225N variant (also known as c.3673G>A), located in coding exon 24 of the ALK gene, results from a G to A substitution at nucleotide position 3673. The aspartic acid at codon 1225 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Database of Curated Mutations |
RCV000433441 | SCV000503775 | pathogenic | Rhabdomyosarcoma | 2014-10-02 | no assertion criteria provided | literature only |