ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.599G>A (p.Arg200Gln)

gnomAD frequency: 0.00001  dbSNP: rs779220548
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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 RCV001373322 SCV001570031 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2020-03-31 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with STAT5B-related conditions. This variant is present in population databases (rs779220548, ExAC 0.006%). This sequence change replaces arginine with glutamine at codon 200 of the STAT5B protein (p.Arg200Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Ambry Genetics RCV002548671 SCV003643202 uncertain significance Inborn genetic diseases 2022-08-31 criteria provided, single submitter clinical testing The c.599G>A (p.R200Q) alteration is located in exon 6 (coding exon 5) of the STAT5B gene. This alteration results from a G to A substitution at nucleotide position 599, causing the arginine (R) at amino acid position 200 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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