ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1348A>G (p.Thr450Ala)

gnomAD frequency: 0.00001  dbSNP: rs1364125268
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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 RCV001996737 SCV002224812 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-10-24 criteria provided, single submitter clinical testing 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 0.01%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 450 of the STAT1 protein (p.Thr450Ala). ClinVar contains an entry for this variant (Variation ID: 1447205). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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