Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853388 | SCV000996265 | likely pathogenic | CHARGE association | 2019-03-14 | criteria provided, single submitter | clinical testing | This nonsense variant found in exon 31 of 38 is predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.6561T>A (p.Cys2187Ter) variant is classified as likely pathogenic. |