Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012795 | SCV001173295 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-02 | criteria provided, single submitter | clinical testing | The p.A6P variant (also known as c.16G>C), located in coding exon 1 of the NF2 gene, results from a G to C substitution at nucleotide position 16. The alanine at codon 6 is replaced by proline, an amino acid with highly 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. |