ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)

gnomAD frequency: 0.00001  dbSNP: rs1457072724
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670570 SCV000795438 pathogenic Lysosomal acid lipase deficiency 2017-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001376635 SCV001413825 pathogenic Wolman disease 2023-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554864). This premature translational stop signal has been observed in individuals with LIPA-related conditions (PMID: 22227072, 28881270). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp140*) 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).
Natera, Inc. RCV000670570 SCV002091455 pathogenic Lysosomal acid lipase deficiency 2021-03-02 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.