ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1856G>A (p.Arg619Gln)

gnomAD frequency: 0.00003  dbSNP: rs1424923651
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001299342 SCV001488426 uncertain significance Koolen-de Vries syndrome 2023-01-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KANSL1 protein function. ClinVar contains an entry for this variant (Variation ID: 1002864). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 619 of the KANSL1 protein (p.Arg619Gln).

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