Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319278 | SCV001182572 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-02-27 | criteria provided, single submitter | clinical testing | The p.R125S variant (also known as c.373C>A), located in coding exon 4 of the NF1 gene, results from a C to A substitution at nucleotide position 373. The arginine at codon 125 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly 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. |