ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln)

gnomAD frequency: 0.00009  dbSNP: rs200606416
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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 RCV001066299 SCV001231306 uncertain significance Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 667 of the STAT2 protein (p.Arg667Gln). This variant is present in population databases (rs200606416, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with STAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 860056). 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002480423 SCV002779576 uncertain significance Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection; Pseudo-TORCH syndrome 3 2022-04-18 criteria provided, single submitter clinical testing

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