ClinVar Miner

Submissions for variant NC_000002.11:g.(?_86459728)_(86459945_?)del

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 RCV003111514 SCV003791936 uncertain significance Hereditary spastic paraplegia 31 2022-08-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the REEP1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with REEP1-related conditions. This variant disrupts a region of the REEP1 protein in which other variant(s) (p.Gly183Ser) have been observed in individuals with REEP1-related conditions (PMID: 30373780; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.

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.