Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319374 | SCV001184953 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-08-24 | criteria provided, single submitter | clinical testing | The p.K1611Q variant (also known as c.4831A>C), located in coding exon 36 of the NF1 gene, results from an A to C substitution at nucleotide position 4831. The lysine at codon 1611 is replaced by glutamine, an amino acid with similar 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. |