ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)

dbSNP: 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
Invitae RCV000812122 SCV000952426 uncertain significance Koolen-de Vries syndrome 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 620 of the KANSL1 protein (p.Asn620Thr). This variant is present in population databases (rs200979425, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. 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. 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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