Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000422529 | SCV000518885 | likely benign | not specified | 2015-09-17 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001042100 | SCV001205764 | uncertain significance | Koolen-de Vries syndrome | 2023-04-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 380631). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. This variant is present in population databases (rs758243969, gnomAD 0.04%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 842 of the KANSL1 protein (p.Val842Ile). |