Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033530 | SCV001196837 | pathogenic | Lysosomal acid lipase deficiency | 2019-10-04 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the LIPA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed to segregate with lysosomal acid lipase (LAL) deficiency in a family (PMID: 26350820). Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001390913 | SCV001592785 | pathogenic | Wolman disease | 2022-10-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the LIPA gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). A similar copy number variant has been observed in individuals with lysosomal acid lipase (LAL) deficiency (PMID: 26350820). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |