ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)

gnomAD frequency: 0.00004  dbSNP: rs779712562
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 RCV000674535 SCV000799887 pathogenic Lysosomal acid lipase deficiency 2018-05-09 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760967 SCV000890864 pathogenic Wolman disease 2018-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000674535 SCV000893854 pathogenic Lysosomal acid lipase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000760967 SCV001582255 pathogenic Wolman disease 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg65*) in the LIPA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). This variant is present in population databases (rs779712562, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with cholesteryl ester storage disease (PMID: 9554751). This variant is also known as p.Arg44*. ClinVar contains an entry for this variant (Variation ID: 558291). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000674535 SCV002091488 pathogenic Lysosomal acid lipase deficiency 2020-12-09 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.