ClinVar Miner

Submissions for variant NM_001378328.1(CELSR1):c.5226+2T>A

dbSNP: rs1569141899
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV001787356 SCV000844971 pathogenic Lymphatic malformation 2018-10-24 criteria provided, single submitter clinical testing The c.5226+2T>A variant in CELSR1 has been reported in a 10-year-old female affected by primary lymphedema. Lymphedema of the left foot developed at 7 years of age and soon after became bilateral. The variant was inherited by her affected father. The loss of function variant falls in a canonical + 2 splice site and can be considered a private variant since it is not listed in any of the public database questioned. The patient was tested using a custom designed next generation panel that covered the following lymphedema-associated genes: CCBE1 (OMIM 612753), CELSR1 (OMIM 604523), FAT4 (OMIM 612411), FLT4 (OMIM 136352), FOXC2 (OMIM 602402), GATA2 (OMIM 137295), GJC2 (OMIM 608803), HGF (OMIM 142409), KIF11 (OMIM 148760), SOX18 (OMIM 601618) and VEGFC (OMIM 601528). In summary, the c.5226+2T>A variant meets the criteria of the American College of Medical Genetics and Genomics guidelines (Richards et al., 2015) to be classified as pathogenic based upon type of variation, segregation study and absence from controls.
OMIM RCV001418323 SCV001620548 pathogenic Lymphatic malformation 9 2021-05-14 no assertion criteria provided literature only

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.