ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)

dbSNP: rs766364179
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alexion, Astrazeneca Rare Disease, Astrazeneca RCV000670582 SCV000999865 likely pathogenic Lysosomal acid lipase deficiency 2019-06-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001855544 SCV002143948 pathogenic Wolman disease 2022-04-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects LIPA function (PMID: 31180157). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LIPA protein function. ClinVar contains an entry for this variant (Variation ID: 554874). This missense change has been observed in individual(s) with biochemical diagnosis of lysosomal acid lipase deficiency (PMID: 29958253, 30684275, 32382506). This variant is present in population databases (rs766364179, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 103 of the LIPA protein (p.Ser103Arg).
Fulgent Genetics, Fulgent Genetics RCV005046889 SCV005681099 likely pathogenic Wolman disease; Cholesteryl ester storage disease 2024-01-16 criteria provided, single submitter clinical testing
Counsyl RCV000670582 SCV000795451 uncertain significance Lysosomal acid lipase deficiency 2017-11-08 flagged submission 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.