ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.845_846delinsTT (p.Arg282Ile)

dbSNP: rs2067814857
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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 RCV001232314 SCV001404865 uncertain significance Combined immunodeficiency due to STK4 deficiency 2019-08-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has not been reported in the literature in individuals with STK4-related conditions. This sequence change replaces arginine with isoleucine at codon 282 of the STK4 protein (p.Arg282Ile). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and isoleucine.

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