Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003746509 | SCV004375296 | pathogenic | Progressive myoclonic epilepsy | 2023-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 268138). This premature translational stop signal has been observed in individual(s) with progressive myoclonic epilepsy (PMID: 19847901). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr222*) in the SCARB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCARB2 are known to be pathogenic (PMID: 19847901). |
Gene |
RCV000258867 | SCV000328632 | pathogenic | Action myoclonus-renal failure syndrome | 2015-03-05 | no assertion criteria provided | literature only |