ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile)

gnomAD frequency: 0.00001  dbSNP: rs1057523139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439118 SCV000530846 likely benign not specified 2016-08-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001235466 SCV001408152 uncertain significance Koolen-de Vries syndrome 2019-11-09 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 893 of the KANSL1 protein (p.Val893Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KANSL1-related disease. ClinVar contains an entry for this variant (Variation ID: 388523). 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: "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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