ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.108del (p.Lys36fs)

dbSNP: rs2133975489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002242924 SCV001591191 pathogenic Autosomal dominant epilepsy with auditory features 2020-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys36Asnfs*40) 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). 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 conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002280182 SCV002568579 pathogenic not provided 2022-08-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)
Mayo Clinic Laboratories, Mayo Clinic RCV002280182 SCV004227206 likely pathogenic not provided 2022-05-02 criteria provided, single submitter clinical testing PM2, PVS1

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