ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.701T>C (p.Val234Ala) (rs199948200)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420400 SCV000525932 likely benign not specified 2018-02-22 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.
Illumina Clinical Services Laboratory,Illumina RCV000311777 SCV000403642 uncertain significance Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000694560 SCV000823011 uncertain significance Koolen-de Vries syndrome 2018-04-03 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 234 of the KANSL1 protein (p.Val234Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs199948200, ExAC 0.009%). This variant has not been reported in the literature in individuals with KANSL1-related disease. ClinVar contains an entry for this variant (Variation ID: 323788). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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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