ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1011_1012del (p.Val339fs)

gnomAD frequency: 0.00001  dbSNP: rs768767763
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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 RCV001235603 SCV001408294 pathogenic Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2023-08-05 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: 961842). This premature translational stop signal has been observed in individual(s) with autosomal recessive STAT1-related conditions (PMID: 32603902). This variant is present in population databases (rs768767763, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Val339Profs*18) 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).
CeGaT Center for Human Genetics Tuebingen RCV001726462 SCV001962346 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing

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