Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705013 | SCV000241381 | likely benign | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001246712 | SCV001420089 | uncertain significance | Koolen-de Vries syndrome | 2019-11-04 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 742 of the KANSL1 protein (p.Arg742Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs150282556, ExAC 0.002%). This variant has not been reported in the literature in individuals with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 205796). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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. |