ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.846A>G (p.Thr282=)

gnomAD frequency: 0.00003  dbSNP: rs534838107
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
Eurofins Ntd Llc (ga) RCV000296316 SCV000333246 uncertain significance not provided 2018-05-10 criteria provided, single submitter clinical testing
Counsyl RCV000673100 SCV000798268 uncertain significance Lysosomal acid lipase deficiency 2018-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391322 SCV001080072 likely benign Wolman disease 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446516 SCV002680615 likely benign Cardiovascular phenotype 2023-07-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000673100 SCV002091333 likely benign Lysosomal acid lipase deficiency 2020-03-30 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.