Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027285 | SCV001189820 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-19 | criteria provided, single submitter | clinical testing | The c.-820C>T variant is located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a C to T substitution 820 bases upstream from the first translated codon. This variant is located in the promoter region of the PTEN gene, but its potential impact on PTEN regulation has not yet been investigated (Zhou XP et al. Am J Hum Genet. 2003; 73:404-411). This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |