ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7055A>T (p.Asp2352Val)

gnomAD frequency: 0.00001  dbSNP: rs143688278
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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 RCV000653003 SCV000774877 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2020-11-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RELN-related disease. This variant is present in population databases (rs143688278, ExAC 0.001%). This sequence change replaces aspartic acid with valine at codon 2352 of the RELN protein (p.Asp2352Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine.
PreventionGenetics, part of Exact Sciences RCV004740388 SCV005366415 uncertain significance RELN-related disorder 2024-05-21 no assertion criteria provided clinical testing The RELN c.7055A>T variant is predicted to result in the amino acid substitution p.Asp2352Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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