ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.319C>T (p.Arg107Cys)

gnomAD frequency: 0.00001  dbSNP: rs1177773526
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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 RCV000642179 SCV000763833 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2018-11-06 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with STAT5B-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 107 of the STAT5B protein (p.Arg107Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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