ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs)

dbSNP: rs746910960
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 RCV001051138 SCV001215277 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys246Profs*39) in the LIMS2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LIMS2 cause disease. This variant is present in population databases (rs746910960, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 847562). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV001051138 SCV003814611 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-05-11 criteria provided, single submitter clinical testing

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.