ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1781G>C (p.Arg594Pro) (rs1057520691)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644671 SCV000766374 uncertain significance Koolen-de Vries syndrome 2017-11-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 594 of the KANSL1 protein (p.Arg594Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. 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: "Tolerated"; 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.

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