ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.818G>A (p.Arg273Gln)

dbSNP: rs750249658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357738 SCV000366158 uncertain significance Epilepsy, familial temporal lobe, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002229856 SCV001535762 uncertain significance Autosomal dominant epilepsy with auditory features 2023-06-16 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 301656). This missense change has been observed in individual(s) with Rubenstein-Taybi syndrome and/or epilepsy (PMID: 29133209). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 273 of the LGI1 protein (p.Arg273Gln).

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