ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.2393G>A (p.Trp798Ter)

dbSNP: rs2145184643
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926999 SCV002198333 pathogenic Immunodeficiency 35 2022-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp798*) in the TYK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYK2 are known to be pathogenic (PMID: 22402565, 26304966). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TYK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1425910). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003312024 SCV004011009 pathogenic not provided 2023-07-01 criteria provided, single submitter clinical testing TYK2: PVS1, PM2, PM3:Supporting

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