ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8053T>C (p.Ser2685Pro)

dbSNP: rs766349515
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658411 SCV000780183 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing The S2685P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S2685P variant is observed in 6/30780 (0.02%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). The S2685P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001233222 SCV001405805 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-08-04 criteria provided, single submitter clinical testing

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.