ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1526A>G (p.Asp509Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002014154 SCV002301888 uncertain significance Koolen-de Vries syndrome 2021-08-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 509 of the KANSL1 protein (p.Asp509Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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