Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026988 | SCV001189473 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-31 | criteria provided, single submitter | clinical testing | The p.S265L variant (also known as c.794C>T), located in coding exon 8 of the NF2 gene, results from a C to T substitution at nucleotide position 794. The serine at codon 265 is replaced by leucine, an amino acid with dissimilar 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. |