ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu)

gnomAD frequency: 0.00010  dbSNP: rs140351189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000384734 SCV000425810 likely benign Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000500616 SCV000597295 uncertain significance not specified 2016-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001319861 SCV001510623 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 447 of the STAT1 protein (p.Asp447Glu). This variant is present in population databases (rs140351189, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with STAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 333273). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV004591123 SCV005080629 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified as a homozygous variant a patient with severe encephalopathy who also harbored variants in additional genes in published literature (Granzow et al., 2015); This variant is associated with the following publications: (PMID: 26050939)

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