ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.2447A>G (p.Lys816Arg)

gnomAD frequency: 0.00001  dbSNP: rs765498089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542431 SCV001761133 uncertain significance Hyper-IgE recurrent infection syndrome 4, autosomal recessive 2020-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002032532 SCV002216261 uncertain significance not provided 2025-02-03 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 816 of the IL6ST protein (p.Lys816Arg). This variant is present in population databases (rs765498089, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IL6ST-related conditions. ClinVar contains an entry for this variant (Variation ID: 1184414). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004927712 SCV005602839 uncertain significance not specified 2024-11-24 criteria provided, single submitter clinical testing The c.2447A>G (p.K816R) alteration is located in exon 17 (coding exon 15) of the IL6ST gene. This alteration results from a A to G substitution at nucleotide position 2447, causing the lysine (K) at amino acid position 816 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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