ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1341-10_1429dup

dbSNP: rs1554935254
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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000416311 SCV001738451 likely pathogenic Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research
Manipal Hospitals, Manipal Hospital RCV000416311 SCV000494067 likely pathogenic Niemann-Pick disease, type A no assertion criteria provided clinical testing Identified in the heterozygous state in both parents of two affected children who died of Niemann Pick Disease. Clinical details and bone marrow biopsy of one child was indicative of NPD, but no genetic analysis was performed. SMPD1 gene sequencing of the parents was negative, but the heterozygous duplication of Exon 5 in SMPD1 was identified by MLPA.

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.