Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003120734 | SCV003795415 | pathogenic | not provided | 2022-07-19 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CYP4V2 gene has been identified. Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of CYP4V2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 25629076). For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV001877781 | SCV002139384 | uncertain significance | Herpes simplex encephalitis, susceptibility to, 1 | 2022-11-01 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TLR3 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TLR3 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with TLR3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |