ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.1532T>A (p.Phe511Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759581 SCV005368266 uncertain significance Epilepsy, familial temporal lobe, 1 2024-08-08 criteria provided, single submitter clinical testing Criteria applied: PM2,PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV005104906 SCV005782752 uncertain significance Autosomal dominant epilepsy with auditory features 2024-04-02 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 511 of the LGI1 protein (p.Phe511Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LGI1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LGI1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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