Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691338 | SCV000819114 | uncertain significance | Herpes simplex encephalitis, susceptibility to, 1 | 2022-06-05 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 570478). This variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 206 of the UNC93B1 protein (p.Gln206His). 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. |