ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)

dbSNP: rs922232615
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587448 SCV000696053 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing Variant summary: The c.1622T>C Variant affects a non-conserved nucleotide and results in a replacement of a medium size and hydrophobic Valine (V) with a small size and hydrophobic Alanine (A). 2/4 in silico tools predict the variant to be neutral. The variant is absent from the large and broad cohorts of the ExAC project and to our knowledge, it has not been reported in affected patients either. Due to the lack of clinical data and functional studies, the variant was classified as a variant of uncertain significance until more information becomes available.
Fulgent Genetics, Fulgent Genetics RCV002476273 SCV002778125 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001829616 SCV003802076 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126832 SCV003802077 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126833 SCV003802079 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829616 SCV002087394 uncertain significance Familial Mediterranean fever 2021-06-03 no assertion criteria provided 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.