ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.375T>C (p.Asn125=)

dbSNP: rs555285694
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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 RCV002030785 SCV002308527 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2021-02-26 criteria provided, single submitter clinical testing This sequence change affects codon 125 of the STAT5B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the STAT5B protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs555285694, ExAC 0.009%). This variant has not been reported in the literature in individuals with STAT5B-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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