ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs)

dbSNP: rs752878896
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
GeneDx RCV000627635 SCV000748635 likely pathogenic not provided 2018-04-23 criteria provided, single submitter clinical testing The c.2730_2733delCAAA likely pathogenic variant in the NEK1 gene has been published in association with short-rib polydactyly syndrome type II also known as Majewski Syndrome (Zhang et al., 2017). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2730_2733delCAAA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Dan Cohn Lab, University Of California Los Angeles RCV000516122 SCV000612099 pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516122 SCV001479758 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly no assertion criteria provided research

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.