Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001176399 | SCV001340375 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001176399 | SCV002698484 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-06 | criteria provided, single submitter | clinical testing | The p.N48D variant (also known as c.142A>G), located in coding exon 2 of the PTEN gene, results from an A to G substitution at nucleotide position 142. The asparagine at codon 48 is replaced by aspartic acid, an amino acid with highly similar properties. 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. |