ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.89_90dup (p.Arg31fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003506657 SCV004301883 pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-07-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg31Cysfs*17) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This variant is not present in population databases (gnomAD no frequency).

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