ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.2465G>A (p.Gly822Asp)

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 RCV005387704 SCV006036922 uncertain significance not specified 2024-12-13 criteria provided, single submitter clinical testing The c.2465G>A (p.G822D) alteration is located in exon 9 (coding exon 9) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 2465, causing the glycine (G) at amino acid position 822 to be replaced by an aspartic acid (D). 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.