ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1796G>A (p.Arg599His)

gnomAD frequency: 0.00001  dbSNP: rs201371180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798993 SCV000938639 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538010 SCV003729477 uncertain significance Inborn genetic diseases 2021-04-17 criteria provided, single submitter clinical testing The c.1796G>A (p.R599H) alteration is located in exon 15 (coding exon 15) of the RELN gene. This alteration results from a G to A substitution at nucleotide position 1796, causing the arginine (R) at amino acid position 599 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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