ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1760C>A (p.Thr587Asn)

dbSNP: rs2078387746
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001986592 SCV002279372 uncertain significance Koolen-de Vries syndrome 2022-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 587 of the KANSL1 protein (p.Thr587Asn). ClinVar contains an entry for this variant (Variation ID: 1493585). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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