ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)

gnomAD frequency: 0.00031  dbSNP: rs147026512
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597124 SCV000701566 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Invitae RCV000652995 SCV000774869 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765910 SCV000897330 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530968 SCV003554939 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.5668A>G (p.I1890V) alteration is located in exon 38 (coding exon 38) of the RELN gene. This alteration results from a A to G substitution at nucleotide position 5668, causing the isoleucine (I) at amino acid position 1890 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.