ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1257G>A (p.Thr419=)

gnomAD frequency: 0.00224  dbSNP: rs73979321
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652163 SCV000774031 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
CeGaT Center for Human Genetics Tuebingen RCV003437382 SCV004148309 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing STAT1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV004544900 SCV004774870 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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