Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002264519 | SCV002543014 | uncertain significance | Autoinflammatory syndrome | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003101473 | SCV003456770 | uncertain significance | STING-associated vasculopathy with onset in infancy | 2022-11-03 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1694173). This variant has not been reported in the literature in individuals affected with TMEM173-related conditions. This variant is present in population databases (rs765347385, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Lys338Argfs*9) in the TMEM173 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the TMEM173 protein. 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. |