ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile)

dbSNP: rs758243969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422529 SCV000518885 likely benign not specified 2015-09-17 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 RCV001042100 SCV001205764 uncertain significance Koolen-de Vries syndrome 2023-04-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 380631). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 present in population databases (rs758243969, gnomAD 0.04%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 842 of the KANSL1 protein (p.Val842Ile).

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