ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2029del (p.Val677fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005119857 SCV005747997 likely pathogenic Charcot-Marie-Tooth disease axonal type 2P 2024-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val677Cysfs*9) in the LRSAM1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the LRSAM1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. This protein change is located in a region of the LRSAM1 protein where a significant number of LRSAM1 nonsense and frameshift mutations have been reported in autosomal dominant Charcot-Marie-Tooth disease (PMID: 33414056, 31211173, 29341362). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.