ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.1124G>A (p.Arg375His)

dbSNP: rs117897081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002237384 SCV002507852 uncertain significance STING-associated vasculopathy with onset in infancy 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 375 of the TMEM173 protein (p.Arg375His). This variant is present in population databases (rs117897081, gnomAD 0.03%). 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: 1680234). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002264481 SCV002542553 likely benign Autoinflammatory syndrome 2022-04-19 criteria provided, single submitter clinical testing

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