ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.1791del (p.Leu599fs)

dbSNP: rs1877554115
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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 RCV001241439 SCV001414456 pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 966700). This variant has not been reported in the literature in individuals affected with STAT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu599Tyrfs*43) 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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