Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667513 | SCV000791980 | likely pathogenic | Lysosomal acid lipase deficiency | 2017-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000029177 | SCV001376981 | pathogenic | Wolman disease | 2023-06-09 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Wolman disease (PMID: 21963785). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs762559980, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Asn161Ilefs*19) 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). ClinVar contains an entry for this variant (Variation ID: 552285). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000029177 | SCV000051822 | pathogenic | Wolman disease | 2011-12-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000667513 | SCV002091444 | pathogenic | Lysosomal acid lipase deficiency | 2020-11-17 | no assertion criteria provided | clinical testing |