ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter)

gnomAD frequency: 0.00006  dbSNP: rs139326865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696057 SCV000824602 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477580 SCV002782306 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740411 SCV005348011 uncertain significance RELN-related disorder 2024-03-07 no assertion criteria provided clinical testing The RELN c.10357C>T variant is predicted to result in premature protein termination (p.Arg3453*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African 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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