Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002427472 | SCV001189225 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-03-19 | criteria provided, single submitter | clinical testing | The p.V2582A variant (also known as c.7745T>C), located in coding exon 52 of the NF1 gene, results from a T to C substitution at nucleotide position 7745. The valine at codon 2582 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly 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. |