Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002327238 | SCV001186588 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-07-10 | criteria provided, single submitter | clinical testing | The p.L1935P variant (also known as c.5804T>C), located in coding exon 39 of the NF1 gene, results from a T to C substitution at nucleotide position 5804. The leucine at codon 1935 is replaced by proline, an amino acid with similar properties. This variant was identified in a French individual suspected of having NF1 and segregated with disease in 3 individuals in this family; however, specific clinical information was not provided (Sabbagh A et al. Hum. Mutat., 2013 Nov;34:1510-8). 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. |