Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042421 | SCV001206100 | pathogenic | Aicardi-Goutieres syndrome 5 | 2019-06-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp313*) in the SAMHD1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SAMHD1-related conditions. Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). For these reasons, this variant has been classified as Pathogenic. |