ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.135A>G (p.Ser45=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003615284 SCV004529218 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-03-03 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 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 45 of the STAT5B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the STAT5B protein.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701811 SCV005204604 likely benign not specified 2024-06-19 criteria provided, single submitter clinical testing Variant summary: STAT5B c.135A>G alters a non-conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251298 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.135A>G in individuals affected with Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2901008). Based on the evidence outlined above, the variant was classified as likely benign.

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