ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.289G>A (p.Ala97Thr)

gnomAD frequency: 0.00025  dbSNP: rs181566154
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762165 SCV000892430 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing STING1: BP4, BS1
Invitae RCV001050985 SCV001215118 uncertain significance STING-associated vasculopathy with onset in infancy 2024-01-31 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 97 of the TMEM173 protein (p.Ala97Thr). This variant is present in population databases (rs181566154, 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: 624065). 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 with a negative 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.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001050985 SCV001984697 uncertain significance STING-associated vasculopathy with onset in infancy 2020-11-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263964 SCV002543045 uncertain significance Autoinflammatory syndrome 2019-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027197 SCV004958815 likely benign Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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