ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.155C>T (p.Thr52Ile)

dbSNP: rs2067377726
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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 RCV001298311 SCV001487359 uncertain significance Combined immunodeficiency due to STK4 deficiency 2020-09-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STK4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 52 of the STK4 protein (p.Thr52Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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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