Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319251 | SCV001177144 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-06-10 | criteria provided, single submitter | clinical testing | The p.E884D variant (also known as c.2652G>T), located in coding exon 21 of the NF1 gene, results from a G to T substitution at nucleotide position 2652. The glutamic acid at codon 884 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |