ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8912G>A (p.Arg2971Gln)

dbSNP: rs1562852978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218856 SCV001390760 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2971 of the RELN protein (p.Arg2971Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of RELN-related conditions (PMID: 33004838). ClinVar contains an entry for this variant (Variation ID: 947726). 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 with a negative predictive value of 80%. 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274154 SCV002559028 likely pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing

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