Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003507004 | SCV004314390 | pathogenic | Smith-Lemli-Opitz syndrome | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant disrupts a region of the DHCR7 protein in which other variant(s) (p.Trp182Leu) have been determined to be pathogenic (PMID: 11427181, 15776424, 15979035). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DHCR7-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.546_548del, results in the deletion of 1 amino acid(s) of the DHCR7 protein (p.Trp182del), but otherwise preserves the integrity of the reading frame. |