ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys) (rs757224600)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705010 SCV000241370 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Invitae RCV001061422 SCV001226165 uncertain significance Koolen-de Vries syndrome 2019-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 426 of the KANSL1 protein (p.Arg426Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs757224600, ExAC 0.01%). This variant has not been reported in the literature in individuals with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 205785). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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