ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.155A>T (p.Gln52Leu)

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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 RCV003615423 SCV004548058 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 52 of the STAT5B protein (p.Gln52Leu). This variant is present in population databases (rs139130762, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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