ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1001T>C (p.Ile334Thr)

gnomAD frequency: 0.00001  dbSNP: rs754879860
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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 RCV001918187 SCV002179649 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-06-13 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This variant is present in population databases (rs754879860, gnomAD 0.009%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 334 of the STAT5B protein (p.Ile334Thr).

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