ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.688C>T (p.Gln230Ter)

dbSNP: rs1060502054
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230371 SCV000548371 pathogenic Autosomal dominant epilepsy with auditory features 2022-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln230*) in the LGI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LGI1 are known to be pathogenic (PMID: 24206907). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 408592). This variant has not been reported in the literature in individuals affected with LGI1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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