Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186941 | SCV000240512 | uncertain significance | not provided | 2014-01-14 | criteria provided, single submitter | clinical testing | The c.1266 C>T splice site variant in the CHRNA4 gene 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 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico algorithms predict that the c.1266 C>T substitution could potentially introduce a new cryptic donor site that may supplant the natural site in exon 5 and lead to abnormal splicing. However, in the absence of RNA/Functional studies the actual effect of the c.1266 C>T sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant as mutations in CHRNA4 demonstrate incomplete penetrance (Hirose and Kurahashi, 2012). This variant has been observed to be maternally inherited. The variant is found in CHILD-EPI panel(s). |
Invitae | RCV000698144 | SCV000826787 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Psychiatry Genetics Yale University | RCV000084602 | SCV000116738 | not provided | Tobacco use disorder | no assertion provided | not provided |