Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010657 | SCV001170887 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-15 | criteria provided, single submitter | clinical testing | The p.W424R variant (also known as c.1270T>C), located in coding exon 10 of the POT1 gene, results from a T to C substitution at nucleotide position 1270. The tryptophan at codon 424 is replaced by arginine, an amino acid with dissimilar 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. |