Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003656723 | SCV001409849 | uncertain significance | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with POLE-related conditions. This variant is present in population databases (rs749852259, ExAC 0.006%). This variant, c.6628_6630del, results in the deletion of 1 amino acid(s) of the POLE protein (p.Lys2210del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. 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. |