ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.49G>A (p.Gly17Arg)

gnomAD frequency: 0.00001  dbSNP: rs759944012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810786 SCV000951020 uncertain significance STING-associated vasculopathy with onset in infancy 2023-08-04 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 TMEM173 protein function. ClinVar contains an entry for this variant (Variation ID: 654765). This variant has not been reported in the literature in individuals affected with TMEM173-related conditions. This variant is present in population databases (rs759944012, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 17 of the TMEM173 protein (p.Gly17Arg).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264002 SCV002543051 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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