ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1675G>C (p.Glu559Gln)

dbSNP: rs1574641583
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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 RCV000803650 SCV000943531 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2018-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STAT1-related disease. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 559 of the STAT1 protein (p.Glu559Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine.

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