Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002400201 | SCV001188354 | likely pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-10-15 | criteria provided, single submitter | clinical testing | The p.L2369W variant (also known as c.7106T>G), located in coding exon 47 of the NF1 gene, results from a T to G substitution at nucleotide position 7106. The leucine at codon 2369 is replaced by tryptophan, an amino acid with similar properties. This variant was identified in an individual meeting clinical diagnostic criteria for neurofibromatosis type 1 (Calì F et al. Eur J Med Genet, 2017 Feb;60:93-99). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |