ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2018G>A (p.Arg673Gln)

gnomAD frequency: 0.00001  dbSNP: rs776285574
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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 RCV000697526 SCV000826143 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2018-02-01 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with STAT5B-related disease. This variant is present in population databases (rs776285574, ExAC 0.001%). This sequence change replaces arginine with glutamine at codon 673 of the STAT5B protein (p.Arg673Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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