Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319411 | SCV001185789 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-12-13 | criteria provided, single submitter | clinical testing | The p.I1761L variant (also known as c.5281A>C), located in coding exon 37 of the NF1 gene, results from an A to C substitution at nucleotide position 5281. The isoleucine at codon 1761 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well 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. |