Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318905 | SCV001169881 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-08-16 | criteria provided, single submitter | clinical testing | The p.Q347L variant (also known as c.1040A>T), located in coding exon 9 of the NF1 gene, results from an A to T substitution at nucleotide position 1040. The glutamine at codon 347 is replaced by leucine, an amino acid with dissimilar properties. 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. |