ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr)

gnomAD frequency: 0.00010  dbSNP: rs777627496
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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 RCV001227790 SCV001400163 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-08-04 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STAT5B protein function. ClinVar contains an entry for this variant (Variation ID: 955195). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This variant is present in population databases (rs777627496, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 556 of the STAT5B protein (p.Ser556Thr).
Fulgent Genetics, Fulgent Genetics RCV002480748 SCV002775876 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 2021-07-14 criteria provided, single submitter clinical testing

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