ClinVar Miner

Submissions for variant NM_006914.4(RORB):c.926G>A (p.Arg309His)

dbSNP: rs1824250656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon 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).

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