ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.563C>T (p.Pro188Leu)

gnomAD frequency: 0.00001  dbSNP: rs143092033
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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 RCV002035011 SCV002116601 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2021-08-14 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. This sequence change replaces proline with leucine at codon 188 of the STAT5B protein (p.Pro188Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs143092033, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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