Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000168287 | SCV000218964 | pathogenic | CHARGE association | 2014-12-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 574 (p.Pro497Thrfs*78). It is expected to result in an absent or disrupted protein product. Truncating sequence changes in CHD7 are known to be pathogenic. This particular truncation has been reported in the literature in a patient referred for CHARGE syndrome testing (PMID: 21158681). For these reasons, this sequence change has been classified as Pathogenic. |