Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986916 | SCV001136071 | uncertain significance | Severe myoclonic epilepsy in infancy | 2020-11-08 | criteria provided, single submitter | clinical testing | The substitution p.Met135Thr is a highly conserved and rare variant (not present in GnomAD V2, V3 and TopMed), detected in a patient with recurrent febrile seizures which inherited it from her mother, who also had febrile seizures. At this moment, we are unable to know if this variant is responsible for this phenotype, and we classified it as a variant of unknown significance. |