ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.889C>T (p.Arg297Cys) (rs772236084)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611422 SCV000732248 likely benign not specified 2017-03-17 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714596 SCV000845305 uncertain significance Koolen-de Vries syndrome 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000714596 SCV001386678 uncertain significance Koolen-de Vries syndrome 2019-05-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 297 of the KANSL1 protein (p.Arg297Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs772236084, ExAC 0.03%). This variant has not been reported in the literature in individuals with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 517800). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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