ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2480C>T (p.Ser827Phe)

gnomAD frequency: 0.00004  dbSNP: rs773238363
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610788 SCV000721735 likely benign not specified 2017-08-04 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 RCV001868053 SCV002279195 uncertain significance Koolen-de Vries syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 827 of the KANSL1 protein (p.Ser827Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs773238363, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 511248). 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. 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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