Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001294290 | SCV001483162 | uncertain significance | not provided | 2021-08-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with KIAA2022-related disease. This sequence change replaces proline with leucine at codon 857 of the KIAA2022 protein (p.Pro857Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs758329821, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. 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. |