Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319146 | SCV001171706 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-09-04 | criteria provided, single submitter | clinical testing | The p.R5W variant (also known as c.13A>T), located in coding exon 1 of the NF1 gene, results from an A to T substitution at nucleotide position 13. The arginine at codon 5 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well 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. |