Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002354940 | SCV001187295 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-09-27 | criteria provided, single submitter | clinical testing | The p.T2114S variant (also known as c.6340A>T), located in coding exon 41 of the NF1 gene, results from an A to T substitution at nucleotide position 6340. The threonine at codon 2114 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |