Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000672159 | SCV000797234 | likely pathogenic | Lysosomal acid lipase deficiency | 2018-01-17 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004689845 | SCV005184379 | likely pathogenic | Wolman disease | 2024-05-01 | criteria provided, single submitter | clinical testing | Variant summary: LIPA c.883C>T (p.His295Tyr) results in a conservative amino acid change in the Alpha/beta hydrolase fold-1 domain (IPR000073) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251260 control chromosomes. c.883C>T has been reported in the literature in individuals affected with cholesteryl ester storage disease (Fasano_2012). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in little secretion of LIPA into the culturing medium in HepG2 cells (Vinje_2019). The following publications have been ascertained in the context of this evaluation (PMID: 22227072, 31131398). ClinVar contains an entry for this variant (Variation ID: 556192). Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Fulgent Genetics, |
RCV005046896 | SCV005678986 | likely pathogenic | Wolman disease; Cholesteryl ester storage disease | 2024-05-13 | criteria provided, single submitter | clinical testing |