ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2129+16G>A

dbSNP: rs753434378
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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 RCV001910651 SCV002194310 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2021-04-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with STAT5B-related conditions. This variant is present in population databases (rs753434378, ExAC 0.001%). This sequence change falls in intron 17 of the STAT5B gene. It does not directly change the encoded amino acid sequence of the STAT5B protein.

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