ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2309G>A (p.Arg770His)

gnomAD frequency: 0.00001  dbSNP: rs144377285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307201 SCV001496601 uncertain significance Koolen-de Vries syndrome 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 770 of the KANSL1 protein (p.Arg770His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs144377285, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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