ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.7G>A (p.Val3Met)

dbSNP: rs144024535
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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 RCV001344589 SCV001538649 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2020-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 3 of the STAT5B protein (p.Val3Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs144024535, ExAC 0.01%). This variant has not been reported in the literature in individuals with STAT5B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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