Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067942 | SCV001233027 | pathogenic | Aicardi-Goutieres syndrome 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SAMHD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg194*) in the SAMHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). ClinVar contains an entry for this variant (Variation ID: 861422). For these reasons, this variant has been classified as Pathogenic. |