ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5594C>T (p.Ser1865Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003794238 SCV004584681 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-01-26 criteria provided, single submitter clinical testing 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. This missense change has been observed in individual(s) with epilepsy (PMID: 31069529). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1865 of the RELN protein (p.Ser1865Leu).
GeneDx RCV004723481 SCV005331623 uncertain significance not provided 2023-06-11 criteria provided, single submitter clinical testing Reported previously in the heterozygous state in an individual with epilepsy; segregation information unavailable (Ganapathy et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31069529)

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