ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.59C>T (p.Ala20Val)

gnomAD frequency: 0.00002  dbSNP: rs935891734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996546 SCV001151308 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003505152 SCV004367038 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-09-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 20 of the STAT5B protein (p.Ala20Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 808267). 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. 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.

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