ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4507A>T (p.Ile1503Phe)

dbSNP: rs779797168
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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 RCV001349563 SCV001543914 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2020-06-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs779797168, ExAC 0.01%). This sequence change replaces isoleucine with phenylalanine at codon 1503 of the RELN protein (p.Ile1503Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. 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: "Possibly 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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