ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln)

gnomAD frequency: 0.00001  dbSNP: rs763541067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614993 SCV000727323 likely benign not specified 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001360089 SCV001555988 uncertain significance Koolen-de Vries syndrome 2023-08-10 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of KANSL1-related conditions (PMID: 33004838). This variant is present in population databases (rs763541067, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1074 of the KANSL1 protein (p.Arg1074Gln). 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: 515272).

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