ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys)

gnomAD frequency: 0.00001  dbSNP: rs774630932
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653022 SCV000774896 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-11-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs774630932, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 3074 of the RELN protein (p.Ser3074Cys). This variant has not been reported in the literature in individuals affected with RELN-related conditions. 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: 542583).

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