ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln)

gnomAD frequency: 0.00004  dbSNP: rs369060692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217496 SCV001389338 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-02-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 946599). 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. This variant has not been reported in the literature in individuals affected with STAT1-related conditions. This variant is present in population databases (rs369060692, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 619 of the STAT1 protein (p.Arg619Gln).
Ambry Genetics RCV003284067 SCV003955619 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.1856G>A (p.R619Q) alteration is located in exon 21 (coding exon 19) of the STAT1 gene. This alteration results from a G to A substitution at nucleotide position 1856, causing the arginine (R) at amino acid position 619 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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