Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003033989 | SCV003323917 | pathogenic | Smith-Lemli-Opitz syndrome | 2022-03-09 | criteria provided, single submitter | clinical testing | This variant disrupts a region of the DHCR7 protein in which other variant(s) (p.Val466Met) have been determined to be pathogenic (PMID: 21990131, 22391996, 23042628; Invitae). 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 sequence change creates a premature translational stop signal (p.Val338Trpfs*75) in the DHCR7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 138 amino acid(s) of the DHCR7 protein. |