ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.1728_1734dup (p.Gly579fs)

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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 RCV003593126 SCV004285493 pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2022-12-03 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 STAT2-related conditions. This variant is present in population databases (rs779636893, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gly579Hisfs*28) in the STAT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAT2 are known to be pathogenic (PMID: 23391734, 26122121).

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