ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter)

dbSNP: rs2117189408
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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 RCV001876413 SCV002126601 pathogenic Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1547*) 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). 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: 1355125). For these reasons, this variant has been classified as Pathogenic.

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