ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.1834_1835dup (p.Phe613fs)

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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 RCV003052520 SCV003353258 pathogenic not provided 2022-04-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IL6ST-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe613Serfs*10) in the IL6ST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IL6ST are known to be pathogenic (PMID: 31914175).

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