ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1942A>G (p.Thr648Ala)

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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 RCV002948355 SCV003275842 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-05-31 criteria provided, single submitter clinical testing This variant is present in population databases (rs761602572, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 648 of the STAT5B protein (p.Thr648Ala).

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