ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.40A>C (p.Arg14=)

gnomAD frequency: 0.00001  dbSNP: rs761439213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788566 SCV000927720 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing
Invitae RCV002234177 SCV002507865 likely benign STING-associated vasculopathy with onset in infancy 2024-01-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263977 SCV002542576 uncertain significance Autoinflammatory syndrome 2022-02-18 criteria provided, single submitter clinical testing
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria RCV002234177 SCV002758785 uncertain significance STING-associated vasculopathy with onset in infancy 2022-12-08 criteria provided, single submitter clinical testing The c.40A>C (p.Arg14=) TMEM173 variant has been reported in our laboratory in a 13-year-old male patient with follow-up for possible periodic fever syndrome starting 4 years ago (fever up to 39.5ºC), without skin lesions, arthralgia or arthritis but with an excellent response to prednisone. He did not present oral thrush, nor respiratory, gastrointestinal or genitourinary infectious symptoms, but with hemoglobin levels between 8 and 11 g/dL. No family history of periodic fevers or related disorders. This variant is present in population databases (gnomAD allele frequency 0.000004035). ClinVar contains an entry for this variant (Variation ID: 636667). In silico analysis (MutationTaster and Human Splicing Finder) supports that this missense variant has a deleterious effect on splicing effect, but this prediction has not been confirmed by functional studies. In summary, the available evidence for c.40A>C (p.Arg14=) TMEM173 variant is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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