ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His) (rs781056926)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187788 SCV000241385 likely benign not provided 2020-03-03 criteria provided, single submitter clinical testing
Invitae RCV000543264 SCV000645058 uncertain significance Koolen-de Vries syndrome 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1019 of the KANSL1 protein (p.Arg1019His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs781056926, ExAC 0.03%). This variant has not been reported in the literature in individuals with KANSL1-related disease. ClinVar contains an entry for this variant (Variation ID: 205800). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably 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.
Fulgent Genetics,Fulgent Genetics RCV000543264 SCV000895108 uncertain significance Koolen-de Vries syndrome 2018-10-31 criteria provided, single submitter clinical testing

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