ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.568_570del (p.Lys190del)

gnomAD frequency: 0.00039  dbSNP: rs762279651
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
GeneDx RCV001722417 SCV000589722 likely pathogenic not provided 2024-07-15 criteria provided, single submitter clinical testing Observed in the homozygous and compound heterozygous states in patients with arthrogryposis; however, features specific to kEDS, such as congenital hypotonia and kyphoscoliosis, were not reported (PMID: 33587123, 31428121); In silico analysis supports a deleterious effect on protein structure/function; In-frame deletion of one amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 24677762, 24773188, 27149304, 22265013, 31428121, 34682862, 33587123, 37432431)
Labcorp Genetics (formerly Invitae), Labcorp RCV000552587 SCV000652316 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type, 2 2024-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279276 SCV002566000 uncertain significance Ehlers-Danlos syndrome 2020-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350107 SCV002652444 likely benign Cardiovascular phenotype 2019-01-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics RCV001722417 SCV002817278 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study.
Mayo Clinic Laboratories, Mayo Clinic RCV001722417 SCV004224003 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing BS1

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.