ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1A>G (p.Met1Val) (rs1060501418)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469330 SCV000546125 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 2017-03-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ENG mRNA. It is expected to result in an absent or disrupted protein product since the next alternate in-frame methionine downstream of the inititator codon is located at codon 183. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in two individuals affected with hereditary haemorrhagic telangiectasia (HHT) (PMID: 15517393, 16429404). In summary, this variant disrupts the initiator codon and has been reported in affected individuals. For these reasons, this variant has been classified as Likely Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508379 SCV000603463 pathogenic not specified 2017-04-17 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000469330 SCV001439441 pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research PVS1+PM2+PP4

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.