Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024195 | SCV001186167 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-12 | criteria provided, single submitter | clinical testing | The c.55_56delGAinsTT variant (also known as p.D19F), located in coding exon 1 of the PTEN gene, results from an in-frame deletion of GA and insertion of TT at nucleotide positions 55 to 56. This results in the substitution of the aspartic acid residue for a phenylalanine residue at codon 19, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |