Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color | RCV000580148 | SCV000686290 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000696406 | SCV000824967 | uncertain significance | PTEN hamartoma tumor syndrome | 2018-07-26 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 147 of the PTEN protein (p.Lys147Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs757087471, ExAC 0.005%). This variant has not been reported in the literature in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 490113). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |