ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2158C>G (p.Leu720Val)

dbSNP: rs1554395337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652994 SCV000774868 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2017-10-18 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RELN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 720 of the RELN protein (p.Leu720Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.
GeneDx RCV001756103 SCV002007549 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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