ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6241G>A (p.Ala2081Thr)

gnomAD frequency: 0.00003  dbSNP: rs761368012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801295 SCV000941066 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-07-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs761368012, gnomAD 0.006%). 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: 646912). This variant has not been reported in the literature in individuals affected with RELN-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2081 of the RELN protein (p.Ala2081Thr).

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