Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319396 | SCV001185390 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-04-20 | criteria provided, single submitter | clinical testing | The p.P1691S variant (also known as c.5071C>T), located in coding exon 36 of the NF1 gene, results from a C to T substitution at nucleotide position 5071. The proline at codon 1691 is replaced by serine, 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. |