ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp) (rs150282556)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705013 SCV000241381 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV001246712 SCV001420089 uncertain significance Koolen-de Vries syndrome 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 742 of the KANSL1 protein (p.Arg742Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs150282556, ExAC 0.002%). This variant has not been reported in the literature in individuals with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 205796). 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: 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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