ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1297C>G (p.Leu433Val)

dbSNP: rs1181214715
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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 RCV000703098 SCV000831980 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2018-01-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 433 of the STAT1 protein (p.Leu433Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with STAT1-related disease. This variant is not present in population databases (ExAC no frequency).

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