Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001245426 | SCV001418714 | pathogenic | Aicardi-Goutieres syndrome 5 | 2019-11-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). This variant has not been reported in the literature in individuals with SAMHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe53Leufs*9) in the SAMHD1 gene. It is expected to result in an absent or disrupted protein product. |