ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)

dbSNP: rs1589548972
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alexion Pharmaceuticals, Inc RCV000857257 SCV000999846 likely pathogenic Lysosomal acid lipase deficiency 2019-06-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323742 SCV004030098 likely pathogenic Wolman disease 2023-07-25 criteria provided, single submitter clinical testing Variant summary: LIPA c.931G>A (p.Gly311Arg) results in a non-conservative amino acid change located in the Alpha/beta hydrolase fold-1 domain (IPR000073) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251358 control chromosomes. To our knowledge, no occurrence of c.931G>A in individuals affected with Lysosomal Acid Lipase Deficiency has been reported. At least one publication reports experimental evidence evaluating an impact on protein function, with enzymatic activity of the variant protein being <10% of normal activity (Del Angel_2019). The following publication has been ascertained in the context of this evaluation (PMID: 31180157). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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.