ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1594A>G (p.Ser532Gly)

dbSNP: rs2125013089
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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 RCV001894395 SCV002118431 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2021-06-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STAT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 532 of the STAT1 protein (p.Ser532Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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