ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)

gnomAD frequency: 0.00006  dbSNP: rs767072839
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
Counsyl RCV000665096 SCV000789160 pathogenic Ellis-van Creveld syndrome 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV001213406 SCV001385035 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys342*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with EVC2-related conditions (PMID: 23220543). ClinVar contains an entry for this variant (Variation ID: 550367). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001328649 SCV001519813 pathogenic Curry-Hall syndrome 2019-06-12 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in homozygous state [PMID 19251731]
Fulgent Genetics, Fulgent Genetics RCV001213406 SCV002776076 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-03-08 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.