ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter)

dbSNP: rs961918637
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956267 SCV002240076 pathogenic Charcot-Marie-Tooth disease axonal type 2P 2021-01-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LRSAM1-related conditions. This sequence change creates a premature translational stop signal (p.Gln697*) in the LRSAM1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the LRSAM1 protein. This variant is not present in population databases (ExAC no frequency). This variant disrupts the region of the LRSAM1 protein between p.Cys694Arg and p.Leu708Argfs*28. This region has been determined to be associated with autosomal dominant LRSAM1-related conditions (PMID: 27615052, 27164712, 22012984), which suggests that variants that occur in this region are likely to be clinically significant. For these reasons, this variant has been classified as Pathogenic.
GenomeConnect - Invitae Patient Insights Network RCV001956267 SCV004228846 not provided Charcot-Marie-Tooth disease axonal type 2P no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 01-28-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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.