ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1433C>T (p.Ala478Val)

gnomAD frequency: 0.00001  dbSNP: rs1555548678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paediatric Endocrinology - Genetics and Genomic Medicine Program, University College London - Great Ormond Street Institute of Child Health RCV000625735 SCV000693651 pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2017-08-02 no assertion criteria provided research Functional studies have shown that the Stat5b variant results in reduced DNA binding. The Stat5b variant segregated in this family with the phenotype of short stature.
OMIM RCV001254779 SCV001430881 pathogenic Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 2020-08-24 no assertion criteria provided literature only

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