ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.1859A>C (p.Asn620Thr) (rs200979425)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622397 SCV000742482 uncertain significance Inborn genetic diseases 2017-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000812122 SCV000952426 uncertain significance Koolen-de Vries syndrome 2019-08-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 620 of the KANSL1 protein (p.Asn620Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine. This variant is present in population databases (rs200979425, 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: 521751). 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. 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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