ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3517dup (p.Arg1173fs)

dbSNP: rs1555631982
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 RCV000556164 SCV000650847 pathogenic Niemann-Pick disease, type C1 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1173Lysfs*85) in the NPC1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 106 amino acid(s) of the NPC1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with NPC1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 471943). This variant disrupts the p.Phe1167 amino acid residue in NPC1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23433426, 25149939). This suggests that this residue is clinically significant, and that variants that disrupt this residue 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.