Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319418 | SCV001185872 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-07-25 | criteria provided, single submitter | clinical testing | The p.D1774E variant (also known as c.5322T>G), located in coding exon 37 of the NF1 gene, results from a T to G substitution at nucleotide position 5322. The aspartic acid at codon 1774 is replaced by glutamic acid, an amino acid with highly similar properties. A similar alteration at this poistion, c.5322T>A, resulting in the same amino acid change, p.D1774E, was reported in an individual with a clinical diagnosis of neurofibromatosis type 1 (Bonatti F et al. Int J Mol Sci 2017 Sep;18(10)). 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. |