ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1112_1114del (p.Arg371del)

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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 RCV002877194 SCV003238296 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-10-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with STAT1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (gnomAD no frequency). This variant, c.1112_1114del, results in the deletion of 1 amino acid(s) of the STAT1 protein (p.Arg371del), but otherwise preserves the integrity of the reading frame.

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