ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002029374 SCV002305528 uncertain significance Koolen-de Vries syndrome 2021-12-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 954 of the KANSL1 protein (p.Arg954Gln). This variant is present in population databases (rs376635152, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of KANSL-related conditions (PMID: 33004838). 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"). 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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