ClinVar Miner

Submissions for variant NM_012092.4(ICOS):c.357del (p.Phe119fs)

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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 RCV002811478 SCV003203810 pathogenic Immunodeficiency, common variable, 1 2022-06-09 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 ICOS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe119Leufs*3) in the ICOS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ICOS are known to be pathogenic (PMID: 11343122, 12577056, 19380800).

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