ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.683C>T (p.Ser228Leu)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004577216 SCV005061129 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 criteria provided, single submitter clinical testing The observed missense c.683C>T(p.Ser228Leu) variant in ENG gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Ser228Leu variant has been reported with allele frequency of 0.001% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The amino acid Ser at position 228 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen - Probably damaging, SIFT - Tolerated and MutationTaster - Polymorphism) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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.