ClinVar Miner

Submissions for variant NM_139276.2(STAT3):c.1261G>A (p.Gly421Arg) (rs869312888)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210420 SCV000266403 pathogenic Autoimmune disease, multisystem, infantile-onset, 1 2014-10-30 criteria provided, single submitter research segregates with the phenotype in an affected family
GeneDx RCV000489679 SCV000577104 likely pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing The G421R variant has been published previously in association with STAT3-related disorders (Milner et al., 2015; Khoury et al., 2017). The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). G421R is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we consider this variant to be likely pathogenic.

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