ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)

dbSNP: rs80358254
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000020229 SCV000220329 likely pathogenic Niemann-Pick disease, type C1 2014-05-19 criteria provided, single submitter literature only
GeneDx RCV000413372 SCV000491260 pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19609713, 19307542, 26984608, 20301473, 26910362, 25665455, 31589614, 35892469, 11333381, 28710748, 25349751, 16126423)
Invitae RCV000020229 SCV001391207 pathogenic Niemann-Pick disease, type C1 2021-08-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000020229 SCV002018350 pathogenic Niemann-Pick disease, type C1 2020-04-01 criteria provided, single submitter clinical testing
GeneReviews RCV000020229 SCV000040572 not provided Niemann-Pick disease, type C1 no assertion provided literature only
Natera, Inc. RCV000020229 SCV002095177 pathogenic Niemann-Pick disease, type C1 2020-09-25 no assertion criteria provided clinical testing

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.