ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1749-4C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004785983 SCV005402334 uncertain significance STAT3-related early-onset multisystem autoimmune disease 2024-04-26 criteria provided, single submitter clinical testing The STAT3 c.1749-4C>A intronic change results in a C to A substitution at the -4 position of intron 19 of the STAT3 gene. Algorithms that predict the impact of sequence changes on splicing indicate that this variant does not affect splicing, but to our knowledge these predictions have not been confirmed by RNA studies. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). To our knowledge, this variant has not been reported in individuals with STAT3-related conditions. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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