ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.530A>G (p.Gln177Arg)

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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 RCV003857524 SCV004662433 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-06-13 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STAT5B protein function. This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 177 of the STAT5B protein (p.Gln177Arg).
Ambry Genetics RCV004369511 SCV004959721 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.530A>G (p.Q177R) alteration is located in exon 5 (coding exon 4) of the STAT5B gene. This alteration results from a A to G substitution at nucleotide position 530, causing the glutamine (Q) at amino acid position 177 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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