ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.1552C>G (p.Pro518Ala)

gnomAD frequency: 0.00001  dbSNP: rs770071249
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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 RCV001922832 SCV002172273 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IL6ST-related conditions. This variant is present in population databases (rs770071249, ExAC 0.03%). This sequence change replaces proline with alanine at codon 518 of the IL6ST protein (p.Pro518Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine.

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