ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.894G>C (p.Gln298His) (rs116928232)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000494734 SCV000583445 likely pathogenic Lysosomal acid lipase deficiency 2017-07-04 no assertion criteria provided clinical testing The observed mutation is not reported in 1000 genomes and ExAC databases. However, it is reported by Gomez et al. 2015. The in silico prediction of the mutation is probably damaging by PolyPhen-2 and damaging by SIFT, LRT and MutationTaster2. The proband, born of consanguineous marriage, was presented with clinical indications of white stool, vomiting, excess crying in the night and hepatosplenomegaly from two months of age. The blood report revealed low platelet, low WBC and low hemoglobin. The proband had edema all over body. The enzyme study revealed that the proband was normal for Neiman Pick A and B disease and Gaucher disease. He died at the age of four and a half months with cardiac respiratory arrest. Mother suffered miscarriage at 1.5 months during first pregnancy. Now mother is pregnant for the third time, CVS (10 weeks) was taken to identify the same variant as found in previous child. The fetus is likely to be a carrier with Wolman disease and cholesteryl ester storage disease due to presence of heterozygous status for NM_000235.3:c.894G>C (Q298H) in exon 8 of LIPA gene. Both the parents were also studied and found to be likely carriers due to presence of the same variant.

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.