ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9605+4G>C

dbSNP: rs1338699707
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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 RCV001995634 SCV002268121 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-07-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Nucleotide substitutions within 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. This variant has not been reported in the literature in individuals affected with RELN-related conditions. This sequence change falls in intron 59 of the RELN gene. It does not directly change the encoded amino acid sequence of the RELN protein. It affects a nucleotide within the consensus splice site of the intron.

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