Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004560802 | SCV005048752 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2024-01-29 | criteria provided, single submitter | clinical testing | The p.D241G variant (also known as c.722A>G), located in coding exon 7 of the NF1 gene, results from an A to G substitution at nucleotide position 722. The aspartic acid at codon 241 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |