Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319305 | SCV001183310 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-05-24 | criteria provided, single submitter | clinical testing | The p.L1339F variant (also known as c.4015C>T), located in coding exon 30 of the NF1 gene, results from a C to T substitution at nucleotide position 4015. The leucine at codon 1339 is replaced by phenylalanine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |