ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.164C>T (p.Ala55Val) (rs1213319847)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538252 SCV000645035 uncertain significance Koolen-de Vries syndrome 2017-07-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 55 of the KANSL1 protein (p.Ala55Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine 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 a 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: "Tolerated"; 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.

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