ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4192G>A (p.Val1398Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003799441 SCV004585050 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-02-24 criteria provided, single submitter clinical testing 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. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1398 of the RELN protein (p.Val1398Met). This variant is present in population databases (rs747794685, gnomAD 0.0009%). 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.

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