Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000015537 | SCV000245631 | uncertain significance | Hyperlipidemia due to hepatic triglyceride lipase deficiency | 2014-10-16 | criteria provided, single submitter | clinical testing | The p.Ser289Phe variant in LIPC has been reported in 1 compound heterozygous individual with hepatic lipase deficiency and segregated with disease in 3 affected compound heterozygous relatives from 1 family (Hegele 1991). This variant has been identified in 0.13% (11/8584) of European American chromosomes and 0.05% (4/4384) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs121912502). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. In vitro assays indicate the p.Ser289Phe variant leads to reduced LIPC activity (Durstenfeld 1994). However, these types of assays may not accurately represent biological function. Computational prediction tools and conservation analysis also suggest that the p.Ser289Phe variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Ser289Phe variant is uncertain. |
| Illumina Laboratory Services, |
RCV000015537 | SCV001276202 | uncertain significance | Hyperlipidemia due to hepatic triglyceride lipase deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Labcorp Genetics |
RCV002054443 | SCV002483323 | likely benign | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV002054443 | SCV005409964 | uncertain significance | not provided | 2024-03-15 | criteria provided, single submitter | clinical testing | PP3, PP4, PM1_supporting, PS3_supporting |
| OMIM | RCV000015537 | SCV000035802 | pathogenic | Hyperlipidemia due to hepatic triglyceride lipase deficiency | 1991-08-30 | no assertion criteria provided | literature only |