ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.625del (p.Leu209fs)

dbSNP: rs1847921591
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
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital RCV001281400 SCV001468705 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2020-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001281400 SCV004570603 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 992684). This premature translational stop signal has been observed in individual(s) with Niemann‚ÄêPick disease (PMID: 33675270). This sequence change creates a premature translational stop signal (p.Leu209Cysfs*48) in the SMPD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMPD1 are known to be pathogenic (PMID: 12369017, 15221801).

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.