ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1012G>A (p.Val338Ile)

gnomAD frequency: 0.00002  dbSNP: rs371953916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001887102 SCV002157682 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-01-26 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STAT3 protein function. ClinVar contains an entry for this variant (Variation ID: 1389278). This variant has not been reported in the literature in individuals affected with STAT3-related conditions. This variant is present in population databases (rs371953916, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 338 of the STAT3 protein (p.Val338Ile).
Ambry Genetics RCV002554134 SCV003538776 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.1012G>A (p.V338I) alteration is located in exon 10 (coding exon 9) of the STAT3 gene. This alteration results from a G to A substitution at nucleotide position 1012, causing the valine (V) at amino acid position 338 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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