ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.787G>A (p.Gly263Arg)

gnomAD frequency: 0.00004  dbSNP: rs759281260
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793190 SCV000932531 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2020-04-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STAT5B-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with arginine at codon 263 of the STAT5B protein (p.Gly263Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. 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: "Probably Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV004027437 SCV004959722 uncertain significance Inborn genetic diseases 2023-11-18 criteria provided, single submitter clinical testing The c.787G>A (p.G263R) alteration is located in exon 7 (coding exon 6) of the STAT5B gene. This alteration results from a G to A substitution at nucleotide position 787, causing the glycine (G) at amino acid position 263 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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