ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7668G>C (p.Gly2556=)

dbSNP: rs1554369642
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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 RCV000652990 SCV000774864 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-09-20 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 542559). This variant has not been reported in the literature in individuals affected with RELN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 2556 of the RELN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RELN protein. This variant also falls at the last nucleotide of exon 48, which is part of the consensus splice site for this exon.

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