ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.995G>T (p.Arg332Leu)

dbSNP: rs146085540
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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 RCV001924497 SCV002147524 uncertain significance Combined immunodeficiency due to STK4 deficiency 2021-03-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs146085540, ExAC 0.05%). 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 STK4 protein function. This variant has not been reported in the literature in individuals with STK4-related conditions. This sequence change replaces arginine with leucine at codon 332 of the STK4 protein (p.Arg332Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine.

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