Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380224 | SCV001578208 | pathogenic | CHARGE association | 2015-10-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in CHD7 are known to be pathogenic (PMID: 22461308). This sequence change inserts 4 nucleotide in exon 31 of the CHD7 mRNA (c.6730_6733dupAAGC), causing a frameshift at codon 2245. This creates a premature translational stop signal (p.Leu2245Glnfs*5) and is expected to result in an absent or disrupted protein product. |