ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3598T>G (p.Trp1200Gly)

dbSNP: rs1831491786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209349 SCV001380779 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2019-10-08 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with glycine at codon 1200 of the RELN protein (p.Trp1200Gly). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RELN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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