ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr)

gnomAD frequency: 0.00003  dbSNP: rs372734271
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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 RCV001045313 SCV001209154 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 739 of the STAT5B protein (p.His739Tyr). This variant is present in population databases (rs372734271, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. ClinVar contains an entry for this variant (Variation ID: 842829). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693502 SCV005192865 uncertain significance not provided criteria provided, single submitter not provided

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