Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001009871 | SCV001169994 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-11 | criteria provided, single submitter | clinical testing | The p.N36I variant (also known as c.107A>T), located in coding exon 1 of the NF2 gene, results from an A to T substitution at nucleotide position 107. The asparagine at codon 36 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is well 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. |