Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000436502 | SCV000532340 | uncertain significance | not provided | 2016-10-06 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the ARFGEF2 gene. The c.2686-16 C>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2686-16 C>A variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Several in-silico splice prediction models predict that c.2686-16 C>A may damage or destroy the natural acceptor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Additionally, this substitution occurs at a position not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV000436502 | SCV002428434 | likely benign | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing |