ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2324G>A (p.Arg775Gln)

gnomAD frequency: 0.00001  dbSNP: rs138115420
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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 RCV001936618 SCV002208464 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 775 of the STAT5B protein (p.Arg775Gln). This variant is present in population databases (rs138115420, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1439450). 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 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").

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