Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Alexion Pharmaceuticals, |
RCV000857250 | SCV000999838 | likely pathogenic | Lysosomal acid lipase deficiency | 2019-06-01 | criteria provided, single submitter | research | |
Invitae | RCV002536215 | SCV003446181 | uncertain significance | Wolman disease | 2021-12-22 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 374 of the LIPA protein (p.His374Tyr). This variant is present in population databases (rs367664486, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with LIPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 695036). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects LIPA function (PMID: 3118057). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Mayo Clinic Laboratories, |
RCV003480881 | SCV004226614 | likely pathogenic | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | PP3, PP4, PM2, PM3_supporting, PS3 |