Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001261198 | SCV001438034 | likely pathogenic | Epilepsy, idiopathic generalized, susceptibility to, 15 | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001880012 | SCV002225394 | likely pathogenic | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 981652). This missense change has been observed in individual(s) with epilepsy (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 309 of the RORB protein (p.Arg309His). |