Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003619123 | SCV004553815 | pathogenic | Smith-Lemli-Opitz syndrome | 2023-09-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DHCR7 protein in which other variant(s) (p.Tyr432Cys) have been determined to be pathogenic (PMID: 15776424, 19390132, 23293579). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.1293_1307del, is a complex sequence change that results in the deletion of 6 and insertion of 1 amino acid(s) in the DHCR7 protein (p.Phe431_Met436delinsLeu). |