ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8445G>T (p.Gly2815=)

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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 RCV003013992 SCV003310893 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-02-10 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with RELN-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change affects codon 2815 of the RELN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RELN protein.

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