Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558253 | SCV000631254 | pathogenic | CHARGE association | 2017-03-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 1746 (p.Tyr1746*) of the CHD7 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in CHD7 are known to be pathogenic (PMID: 16400610, 22461308). |
Institute of Medical Genetics and Applied Genomics, |
RCV000558253 | SCV003919723 | pathogenic | CHARGE association | 2023-04-26 | criteria provided, single submitter | clinical testing |