ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1102del (p.Gln368fs)

dbSNP: rs761761205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042704 SCV001206404 pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-08-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with short stature (PMID: 34006472). ClinVar contains an entry for this variant (Variation ID: 840661). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln368Argfs*2) in the STAT5B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAT5B are known to be pathogenic (PMID: 15827093).
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001042704 SCV001482398 likely pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2019-05-31 no assertion criteria provided research

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