ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.775A>G (p.Ile259Val)

dbSNP: rs2111767535
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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 RCV002003911 SCV002274323 uncertain significance not provided 2021-02-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with IL6ST-related conditions. This sequence change replaces isoleucine with valine at codon 259 of the IL6ST protein (p.Ile259Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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