ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.679G>A (p.Val227Met)

gnomAD frequency: 0.00001  dbSNP: rs761283639
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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 RCV001982672 SCV002222518 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2021-09-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces valine with methionine at codon 227 of the STAT5B protein (p.Val227Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.

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