Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000190602 | SCV000245630 | pathogenic | Lysosomal acid lipase deficiency | 2015-02-25 | criteria provided, single submitter | clinical testing | The p.Gln85X variant in LIPA has not been previously reported in individuals with lysosomal acid lipase deficiency (LALD) and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 85 which is predicted to lead to a truncated or absent protein. Complete loss of LIPA function is an established disease mechanism in LALD. In summary, this variant meets our criteria to be classified as pathogenic LALD in an autosomal recessive manner. |