ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3655A>G (p.Ile1219Val)

dbSNP: rs1057524179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430975 SCV000534778 uncertain significance not provided 2019-09-04 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000544221 SCV000656288 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2017-04-16 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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 is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RELN-related disease. This sequence change replaces isoleucine with valine at codon 1219 of the RELN protein (p.Ile1219Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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