ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2446C>T (p.Leu816Phe)

gnomAD frequency: 0.00031  dbSNP: rs144653976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081228 SCV000113136 uncertain significance not provided 2013-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764667 SCV000895797 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-10-21 criteria provided, single submitter clinical testing
Invitae RCV001045874 SCV001209748 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974973 SCV004787525 uncertain significance RELN-related condition 2023-12-15 criteria provided, single submitter clinical testing The RELN c.2446C>T variant is predicted to result in the amino acid substitution p.Leu816Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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