Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065400 | SCV001230356 | pathogenic | Progressive myoclonic epilepsy | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln88Serfs*55) in the GOSR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GOSR2 are known to be pathogenic (PMID: 21549339). This variant is present in population databases (rs776869841, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GOSR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 859319). For these reasons, this variant has been classified as Pathogenic. |