ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2197A>G (p.Thr733Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001981653 SCV002222604 uncertain significance Koolen-de Vries syndrome 2021-11-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 733 of the KANSL1 protein (p.Thr733Ala). This variant is present in population databases (rs80026189, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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