Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Alexion, |
RCV000670582 | SCV000999865 | likely pathogenic | Lysosomal acid lipase deficiency | 2019-06-01 | criteria provided, single submitter | research | |
Labcorp Genetics |
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, |
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 |