ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.2098G>T (p.Val700Leu)

dbSNP: rs1567653213
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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 RCV000814682 SCV000955101 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2018-11-23 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 700 of the STAT5B protein (p.Val700Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine.

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