ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3215del (p.Asp1072fs)

dbSNP: rs1831725857
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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 RCV001062391 SCV001227188 pathogenic Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RELN-related conditions. This sequence change creates a premature translational stop signal (p.Asp1072Valfs*21) in the RELN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RELN are known to be pathogenic (PMID: 10973257, 26046367, 28454995). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 856842). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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