ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4160G>A (p.Arg1387Gln)

dbSNP: rs1259371944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932929 SCV002193866 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1387 of the RELN protein (p.Arg1387Gln). 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 RELN protein function. ClinVar contains an entry for this variant (Variation ID: 1415127). This missense change has been observed in individual(s) with clinical features of lateral temporal lobe epilepsy (PMID: 33004838). This variant is present in population databases (no rsID available, gnomAD 0.003%).

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