ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3261C>A (p.Asp1087Glu)

dbSNP: rs778181734
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
Ambry Genetics RCV004321203 SCV003984323 uncertain significance not specified 2023-05-17 criteria provided, single submitter clinical testing The c.3342C>A (p.D1114E) alteration is located in exon 16 (coding exon 16) of the NPC1L1 gene. This alteration results from a C to A substitution at nucleotide position 3342, causing the aspartic acid (D) at amino acid position 1114 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.