ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys)

gnomAD frequency: 0.00001  dbSNP: rs1165686675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199137 SCV001370133 uncertain significance Familial temporal lobe epilepsy 7 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP3,PP4.
Invitae RCV001248020 SCV001421479 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-08-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RELN-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2423 of the RELN protein (p.Arg2423Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 932028). 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. 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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