ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.644T>C (p.Leu215Ser)

dbSNP: rs1430791171
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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 RCV001321869 SCV001512720 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2020-05-05 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with STAT5B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with serine at codon 215 of the STAT5B protein (p.Leu215Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine.

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