ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1462T>G (p.Phe488Val)

dbSNP: rs2080168730
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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 RCV001207139 SCV001378479 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2019-10-14 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). This variant has not been reported in the literature in individuals with STAT5B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with valine at codon 488 of the STAT5B protein (p.Phe488Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine.

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