ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp)

gnomAD frequency: 0.00063  dbSNP: rs149456922
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000863251 SCV001003881 likely benign Charcot-Marie-Tooth disease axonal type 2P 2025-01-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173644 SCV001336746 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001683673 SCV001903067 uncertain significance not provided 2020-09-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32376792)
Ambry Genetics RCV002415987 SCV002680306 uncertain significance Inborn genetic diseases 2022-06-07 criteria provided, single submitter clinical testing Unlikely to be causative of autosomal dominant Charcot-Marie-Tooth disease, type 2P (CMT2P) Based on insufficient or conflicting evidence, 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.