Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413810 | SCV000491527 | likely pathogenic | not provided | 2016-06-24 | criteria provided, single submitter | clinical testing | The c.3972 G>A variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models suggest that c.3972 G>A may damage the natural splice donor site of intron 21 and result in abnormal gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. The c.3972 G>A variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
Institute of Human Genetics, |
RCV001838624 | SCV002098367 | likely pathogenic | Dystonia 12 | 2022-02-11 | criteria provided, single submitter | clinical testing | ACMG categories: PS1,PS2 |