ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.260A>G (p.Lys87Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003029880 SCV003332680 uncertain significance Combined immunodeficiency due to STK4 deficiency 2022-06-02 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 87 of the STK4 protein (p.Lys87Arg). This variant is present in population databases (rs778374900, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with STK4-related conditions. 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 STK4 protein function. 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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