ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2314C>T (p.Leu772Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002571035 SCV002935957 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-08-04 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1900360). 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 leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 772 of the STAT5B protein (p.Leu772Phe).

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