ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2999A>G (p.Gln1000Arg)

dbSNP: rs772586514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209621 SCV001381065 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-10-26 criteria provided, single submitter clinical testing 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: 940103). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1000 of the RELN protein (p.Gln1000Arg).
Mayo Clinic Laboratories, Mayo Clinic RCV001508578 SCV001714815 uncertain significance not provided 2019-06-09 criteria provided, single submitter clinical testing

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