ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2897C>T (p.Thr966Ile) (rs763252158)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644674 SCV000766377 uncertain significance Koolen-de Vries syndrome 2019-06-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 966 of the KANSL1 protein (p.Thr966Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs763252158, ExAC 0.003%). 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: Possibly Damaging; Align-GVGD: Class C0). 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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