ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.392G>T (p.Gly131Val)

dbSNP: rs2144267555
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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 RCV002005288 SCV002260576 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2021-10-02 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 131 of the STAT5B protein (p.Gly131Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.

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