Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187930 | SCV000241532 | uncertain significance | not provided | 2013-11-26 | criteria provided, single submitter | clinical testing | The G684S missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It 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 identification of G684S suggests that G684S may be a benign variant not associated with the child's phenotype; however, the possibility that it is a disease-associated mutation cannot be excluded since some individuals with KCNQ2 mutations never develop seizures due to incomplete penetrance. The variant is found in INFANT-EPI panel(s). |