Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002052157 | SCV002318658 | uncertain significance | Developmental and epileptic encephalopathy, 27 | 2022-03-22 | criteria provided, single submitter | clinical testing | It is not observed in the gnomAD v2.1.1 dataset. A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000143189, PMID:24863970). A missense variant is a common mechanism. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |