Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813327 | SCV000953685 | uncertain significance | Costello syndrome | 2019-07-01 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the HRAS gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Isolated whole-gene copy number gains of HRAS have not been reported in the literature. However, larger copy number events that include this gene have been reported in individuals affected with congenital heart defect (PMID: 22318994). 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. |