Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031544 | SCV001194850 | pathogenic | Lysosomal acid lipase deficiency | 2019-09-16 | 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. |