ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1102-5T>A

gnomAD frequency: 0.00001  dbSNP: rs1459339879
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173487 SCV001336576 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664728 SCV001880731 uncertain significance not provided 2021-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068085 SCV002446391 likely benign Charcot-Marie-Tooth disease type 4 2024-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375052 SCV002668193 uncertain significance Inborn genetic diseases 2020-05-19 criteria provided, single submitter clinical testing The c.691-5T>A intronic variant results from a T to A substitution 5 nucleotides upstream from coding exon 4 in the FGD4 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.