ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1487-4_1499del

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 RCV003780012 SCV004603903 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-12-14 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 6 (c.1487-4_1499del) of the SMPD1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant disrupts a region of the SMPD1 protein in which other variant(s) (p.Arg498His) have been determined to be pathogenic (PMID: 15221801, 27338287, 31965297, 32292456; 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. 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.