ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1247T>G (p.Phe416Cys)

dbSNP: rs2080181180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224661 SCV002502633 uncertain significance not provided 2022-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101275 SCV003251399 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-09-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 expected to disrupt STAT5B protein function. ClinVar contains an entry for this variant (Variation ID: 1678070). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 416 of the STAT5B protein (p.Phe416Cys).

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