ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1474-9C>A

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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 RCV003613677 SCV004409325 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-11-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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). This sequence change falls in intron 12 of the STAT5B gene. It does not directly change the encoded amino acid sequence of the STAT5B protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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