ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7268G>A (p.Arg2423His)

gnomAD frequency: 0.00012  dbSNP: rs140660860
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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 RCV001208786 SCV001380193 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512145 SCV002821832 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing RELN: BP4, BS2
Ambry Genetics RCV002561699 SCV003756220 uncertain significance Inborn genetic diseases 2022-02-02 criteria provided, single submitter clinical testing The c.7268G>A (p.R2423H) alteration is located in exon 46 (coding exon 46) of the RELN gene. This alteration results from a G to A substitution at nucleotide position 7268, causing the arginine (R) at amino acid position 2423 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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