Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319304 | SCV001183290 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-05-15 | criteria provided, single submitter | clinical testing | The p.Q1336P variant (also known as c.4007A>C), located in coding exon 30 of the NF1 gene, results from an A to C substitution at nucleotide position 4007. The glutamine at codon 1336 is replaced by proline, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |