Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319207 | SCV001175213 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-10-24 | criteria provided, single submitter | clinical testing | The p.L704V variant (also known as c.2110C>G), located in coding exon 18 of the NF1 gene, results from a C to G substitution at nucleotide position 2110. The leucine at codon 704 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |