Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019615 | SCV001180996 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-22 | criteria provided, single submitter | clinical testing | The p.N323H variant (also known as c.967A>C), located in coding exon 8 of the PTEN gene, results from an A to C substitution at nucleotide position 967. The asparagine at codon 323 is replaced by histidine, an amino acid with similar 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. |