ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1775+3G>A

gnomAD frequency: 0.00002  dbSNP: rs1171483179
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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 RCV001297146 SCV001486132 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-06-15 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1000937). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 14 of the STAT5B gene. It does not directly change the encoded amino acid sequence of the STAT5B protein. It affects a nucleotide within the consensus splice site.

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