ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.784G>A (p.Ala262Thr)

gnomAD frequency: 0.00032  dbSNP: rs140038439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206640 SCV001377959 uncertain significance STING-associated vasculopathy with onset in infancy 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 262 of the TMEM173 protein (p.Ala262Thr). This variant is present in population databases (rs140038439, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TMEM173-related conditions. ClinVar contains an entry for this variant (Variation ID: 937596). 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 expected to disrupt TMEM173 protein function with a positive predictive value of 80%. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264221 SCV002543064 uncertain significance Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing

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