Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530377 | SCV000631246 | pathogenic | CHARGE association | 2017-03-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 1164 (p.Gln1164*) of the CHD7 gene. It is expected to result in an absent or disrupted protein product. 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). For these reasons, this variant has been classified as Pathogenic. |