ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1687G>C (p.Val563Leu)

gnomAD frequency: 0.00002  dbSNP: rs368090783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051509 SCV001215665 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003405256 SCV004113836 uncertain significance RELN-related condition 2023-01-27 criteria provided, single submitter clinical testing The RELN c.1687G>C variant is predicted to result in the amino acid substitution p.Val563Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-103293074-C-G). 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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