Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703690 | SCV000522035 | likely benign | not provided | 2019-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000530673 | SCV000645057 | uncertain significance | Koolen-de Vries syndrome | 2020-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with serine at codon 1013 of the KANSL1 protein (p.Leu1013Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs138490347, ExAC 0.006%). This variant has not been reported in the literature in individuals with a KANSL1-related disease. ClinVar contains an entry for this variant (Variation ID: 382192). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). In summary, this variant has uncertain impact on KANSL1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |