ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.1826del (p.Gly609fs)

dbSNP: rs2136044173
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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 RCV002002410 SCV002233872 pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly609Alafs*33) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1453440). For these reasons, this variant has been classified as Pathogenic.

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