ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu) (rs761904173)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069415 SCV001234579 uncertain significance Koolen-de Vries syndrome 2019-02-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 755 of the KANSL1 protein (p.Gly755Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs761904173, 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 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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