ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003150890 SCV003839073 uncertain significance STAT3-related early-onset multisystem autoimmune disease 2023-01-23 criteria provided, single submitter clinical testing This STAT3 missense variant (rs776115471) is rare (<0.1%) in a large population dataset (gnomAD v2.1.1: 2/251376 total alleles; 0.0008%; no homozygotes). It has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be deleterious, but these algorithms have low specificity, especially for predicting gain of function or dominant negative variants. The arginine residue at this position is evolutionarily conserved across most of the species assessed. We consider the clinical significance of c.1004G>A;p.Arg335Gln in STAT3 to be uncertain at this time.
Johns Hopkins Genomics, Johns Hopkins University RCV003150889 SCV003839074 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant 2023-01-23 criteria provided, single submitter clinical testing This STAT3 missense variant (rs776115471) is rare (<0.1%) in a large population dataset (gnomAD v2.1.1: 2/251376 total alleles; 0.0008%; no homozygotes). It has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be deleterious, but these algorithms have low specificity, especially for predicting gain of function or dominant negative variants. The arginine residue at this position is evolutionarily conserved across most of the species assessed. We consider the clinical significance of c.1004G>A;p.Arg335Gln in STAT3 to be uncertain at this time.

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