Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319172 | SCV001173212 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-11-26 | criteria provided, single submitter | clinical testing | The p.N562T variant (also known as c.1685A>C), located in coding exon 15 of the NF1 gene, results from an A to C substitution at nucleotide position 1685. The asparagine at codon 562 is replaced by threonine, an amino acid with 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. |