ClinVar Miner

Submissions for variant NM_012156.2(EPB41L1):c.1982T>C (p.Leu661Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002286552 SCV002574797 uncertain significance Intellectual disability, autosomal dominant 11 2022-06-03 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 15 of the EPB41L1 gene that results in the amino acid substitution of Proline for Leucine at codon 1982 was detected. The observed variant c.1982T>C(p.Leu661Pro) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be 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.