ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.59C>T (p.Thr20Met)

gnomAD frequency: 0.00024  dbSNP: rs145135688
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000653030 SCV000774904 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764678 SCV000895808 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001544733 SCV001763917 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526733 SCV005039701 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing Variant summary: RELN c.59C>T (p.Thr20Met) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7e-05 in 244322 control chromosomes. This frequency does not allow for any conclusion about variant significance. Although the number of occurrences of this variant in gnomAD make it unlikely to be pathogenic for autosomal dominant Epilepsy Familial Temporal Lobe 7, a possible effect in autosomal recessive Lissencephaly 2 (Norman-Roberts type) cannot be definitively ruled out using these data. To our knowledge, no occurrence of c.59C>T in individuals affected with Epilepsy Familial Temporal Lobe 7 or Lissencephaly 2 (Norman-Roberts type) has been reported, and no experimental evidence demonstrating its impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 542588). Based on the evidence outlined above, the variant was classified as uncertain significance.

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.