ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4435G>A (p.Asp1479Asn)

dbSNP: rs781311212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221079 SCV001393102 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-09-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 949588). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1479 of the RELN protein (p.Asp1479Asn). This variant is present in population databases (rs781311212, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RELN-related conditions. 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV001726453 SCV001962076 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing

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