ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) (rs1060502053)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468265 SCV000548369 pathogenic Epilepsy, lateral temporal lobe, autosomal dominant 2016-07-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the LGI1 mRNA at codon 376 (p.Trp376*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated LGI1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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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