ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.71_74dup (p.Ser25fs)

dbSNP: rs1382612689
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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 RCV001953772 SCV002246365 pathogenic Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-10-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1457465). This variant has not been reported in the literature in individuals affected with STAT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ser25Argfs*26) in the STAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAT1 are known to be pathogenic (PMID: 22651901).

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