ClinVar Miner

Submissions for variant NC_000002.12:g.(?_32063812)_(32116232_?)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
Invitae RCV000535358 SCV000645335 pathogenic Hereditary spastic paraplegia 4 2017-06-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-7 of the SPAST gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the SPAST gene. This is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with hereditary spastic paraplegia. It was also found in an unaffected relative, potentially representing a case of incomplete penetrance (PMID: 17035675). Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as 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.