Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001032228 | SCV001195535 | uncertain significance | Costello syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the HRAS gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HRAS 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 HRAS-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |