Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494329 | SCV000583393 | likely pathogenic | not provided | 2016-06-24 | criteria provided, single submitter | clinical testing | The c.1997-6G>A variant in the IGF1R gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is expected to result in the creation of a cryptic splice acceptor site upstream of the natural splice acceptor site in intron 9, and is expected to cause abnormal gene splicing. The c.1997-6G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1997-6G>A variant is a strong candidate for a pathogenic variant.. However, the possibility it may be a rare benign variant cannot be excluded. |
Baylor Genetics | RCV001331397 | SCV001523430 | uncertain significance | Growth delay due to insulin-like growth factor I resistance | 2020-05-05 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |