ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6398A>C (p.Glu2133Ala)

gnomAD frequency: 0.00001  dbSNP: rs1349996046
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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 RCV001296148 SCV001485104 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2020-01-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with RELN-related conditions. This sequence change replaces glutamic acid with alanine at codon 2133 of the RELN protein (p.Glu2133Ala). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency).

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