ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) (rs143124972)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169010 SCV000220151 likely pathogenic Niemann-Pick disease type C1 2014-03-07 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728524 SCV000856111 pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781669 SCV000919892 pathogenic Niemann-Pick disease, type C 2017-12-29 criteria provided, single submitter clinical testing Variant summary: The NPC1 c.2819C>T (p.Ser940Leu) variant involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 3/244918 control chromosomes (gnomAD) at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPC1 variant (0.0027735). Multiple publications have cited the variant in affected homozygote and compound heterozygote individuals. In addition, a clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000169010 SCV001369023 pathogenic Niemann-Pick disease type C1 2019-10-22 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM3,PP3,PP5.
Natera, Inc. RCV000169010 SCV001453841 pathogenic Niemann-Pick disease type C1 2020-09-16 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.