ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.2414T>C (p.Met805Thr) (rs201526313)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187733 SCV000241330 likely benign not specified 2015-03-14 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 RCV000469349 SCV000548810 uncertain significance Koolen-de Vries syndrome 2016-09-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 805 of the KANSL1 protein (p.Met805Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs201526313, ExAC 0.1%) but has not been reported in the literature in individuals with a KANSL1-related disease. ClinVar contains an entry for this variant (Variation ID: 205745). 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. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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