Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002434401 | SCV001181256 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-02-22 | criteria provided, single submitter | clinical testing | The p.F1103C variant (also known as c.3308T>G), located in coding exon 25 of the NF1 gene, results from a T to G substitution at nucleotide position 3308. The phenylalanine at codon 1103 is replaced by cysteine, an amino acid with highly 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. |