ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) (rs1554907787)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553240 SCV000639374 pathogenic Familial temporal lobe epilepsy 1 2017-07-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the LGI1 gene (p.Leu419*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 139 amino acids of the LGI1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LGI1-related disease. A different nonsense variant that is further downstream (p.Arg474*) has been shown to segregate with disease and determined to be pathogenic (PMID: 11978770, 15349881). This suggests that a domain critical for LGI1 protein function is likely disrupted in these variants. For these reasons, this variant has been classified as Pathogenic.

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