ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.793A>G (p.Ile265Val)

gnomAD frequency: 0.00223  dbSNP: rs148775168
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652162 SCV000774030 benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2024-01-25 criteria provided, single submitter clinical testing
New York Genome Center RCV001263284 SCV001441322 uncertain significance Recurrent infections 2019-05-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437381 SCV004148311 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing STAT1: PP2, BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV003437381 SCV004225971 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing BP4, PP2
PreventionGenetics, part of Exact Sciences RCV004544899 SCV004769515 likely benign STAT1-related disorder 2024-02-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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