Submissions for variant NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001224102	SCV001396280	uncertain significance	Koolen-de Vries syndrome	2019-05-16	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with alanine at codon 68 of the KANSL1 protein (p.Thr68Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. 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 conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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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