Total submissions: 4
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, |
RCV002263977 | SCV002542576 | uncertain significance | Autoinflammatory syndrome | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Servicio Canario de Salud, |
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. |