ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1215_1219del (p.Asn405fs) (rs1553317032)

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 RCV000548535 SCV000645342 pathogenic Spastic paraplegia 4, autosomal dominant 2017-06-27 criteria provided, single submitter clinical testing This sequence change inserts 5 nucleotides in exon 9 of the SPAST mRNA (c.1215_1219delTATAA), causing a frameshift at codon 405. This creates a premature translational stop signal (p.Asn405Lysfs*36) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAST are known to be pathogenic. This particular variant has been reported in the literature in several families and individuals affected with hereditary spastic paraplegia (PMID: 10699187, 19289482, 17598599, 18701882, 15841487, 26671083, 17594340). This variant is also known as c.1340_1344delTATAA or 1340del5 in the literature. 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.