ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.340A>G (p.Ile114Val)

dbSNP: rs2145653234
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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 RCV001895396 SCV002152887 uncertain significance Combined immunodeficiency due to STK4 deficiency 2021-09-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 114 of the STK4 protein (p.Ile114Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant has not been reported in the literature in individuals affected with STK4-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 STK4 protein function.

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