Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319403 | SCV001185456 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-10-21 | criteria provided, single submitter | clinical testing | The p.D170E variant (also known as c.510C>A), located in coding exon 5 of the NF1 gene, results from a C to A substitution at nucleotide position 510. The aspartic acid at codon 170 is replaced by glutamic acid, 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. |