Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543551 | SCV000631270 | pathogenic | CHARGE association | 2017-01-31 | criteria provided, single submitter | clinical testing | This sequence change inserts 2 nucleotides in exon 32 of the CHD7 mRNA (c.6841_6842insTA), causing a frameshift at codon 2281. This creates a premature translational stop signal (p.Asp2281Valfs*17) and 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. |