ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1756G>A (p.Gly586Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004443864 SCV004937391 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.1756G>A (p.G586S) alteration is located in exon 14 (coding exon 14) of the RELN gene. This alteration results from a G to A substitution at nucleotide position 1756, causing the glycine (G) at amino acid position 586 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005220895 SCV005868147 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-06-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 586 of the RELN protein (p.Gly586Ser). This variant is not present in population databases (gnomAD no frequency). 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 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.

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