Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000701760 | SCV000830575 | uncertain significance | Koolen-de Vries syndrome | 2018-04-23 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with valine at codon 279 of the KANSL1 protein (p.Asp279Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KANSL1-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |
| Illumina Laboratory Services, |
RCV000701760 | SCV001251584 | uncertain significance | Koolen-de Vries syndrome | 2020-02-19 | criteria provided, single submitter | clinical testing | The KANSL1 3 c.836A>T (p.Asp279Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Asp279Val variant variant is classified as a variant of unknown significance for Koolen-De Vries syndrome. |