ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1133A>T (p.Gln378Leu)

gnomAD frequency: 0.00001  dbSNP: rs1437950343
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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 RCV001362803 SCV001558839 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1054318). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 378 of the STAT5B protein (p.Gln378Leu). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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