Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000708545 | SCV000837655 | uncertain significance | Long QT syndrome 6 | 2018-04-25 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the KCNE2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions confined to KCNE2 have not been reported in the literature in individuals with a KCNE2-related disease. Contiguous gene deletions that include the KCNE2 gene have been reported in individuals with a syndromic form of familial platelet disorder (FPD) with predisposition to acute myeloid leukemia (AML) that may include intellectual disability, variable developmental delays, congenital anomalies, and/or growth restriction (PMID: 21626672, 19679353, 18478040). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNE2 cause disease. 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. |