ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9605+6T>A

gnomAD frequency: 0.00004  dbSNP: rs376881823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592188 SCV000703528 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001047948 SCV001211934 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-08-28 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs376881823, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with RELN-related conditions. ClinVar contains an entry for this variant (Variation ID: 498490). 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 may create or strengthen a splice site. 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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