ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.285G>A (p.Gln95=)

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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 RCV003031323 SCV003316291 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-02-28 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. 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 affects codon 95 of the STAT5B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the STAT5B protein. This variant also falls at the last nucleotide of exon 3, which is part of the consensus splice site for this exon.

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