ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2447A>G (p.His816Arg)

dbSNP: rs2077222127
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933643 SCV002204045 uncertain significance Koolen-de Vries syndrome 2021-07-10 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 816 of the KANSL1 protein (p.His816Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. This variant is not present in population databases (ExAC no frequency). 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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