Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000368412 | SCV000344457 | pathogenic | not provided | 2018-01-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001376636 | SCV000941771 | pathogenic | Wolman disease | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser133*) in the LIPA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). This variant is present in population databases (rs756016704, gnomAD 0.004%). This premature translational stop signal has been observed in individuals with Wolman disease (PMID: 24832708, 28220406). ClinVar contains an entry for this variant (Variation ID: 289986). For these reasons, this variant has been classified as Pathogenic. |
Centre for Inherited Metabolic Diseases, |
RCV000801965 | SCV001554463 | pathogenic | Lysosomal acid lipase deficiency | 2021-04-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000801965 | SCV002060124 | pathogenic | Lysosomal acid lipase deficiency | 2021-11-08 | criteria provided, single submitter | clinical testing | NM_000235.2(LIPA):c.398delC(S133*) is a nonsense variant classified as pathogenic in the context of lysosomal acid lipase deficiency. S133* has been observed in cases with relevant disease (PMID: 11441129). Functional assessments of this variant are available in the literature (PMID: 11441129). S133* has been observed in population frequency databases (gnomAD: NFE 0.004%). In summary, NM_000235.2(LIPA):c.398delC(S133*) is a nonsense variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. |
Fulgent Genetics, |
RCV000801965 | SCV002813880 | pathogenic | Lysosomal acid lipase deficiency | 2022-02-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000801965 | SCV001453548 | pathogenic | Lysosomal acid lipase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |