ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1864A>G (p.Thr622Ala)

gnomAD frequency: 0.00005  dbSNP: rs567178302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039231 SCV001202751 uncertain significance Koolen-de Vries syndrome 2019-01-26 criteria provided, single submitter clinical testing 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. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KANSL1-related conditions. This variant is present in population databases (rs567178302, ExAC 0.05%). This sequence change replaces threonine with alanine at codon 622 of the KANSL1 protein (p.Thr622Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine.

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