Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001390320 | SCV001592004 | pathogenic | Smith-Lemli-Opitz syndrome | 2020-10-14 | criteria provided, single submitter | clinical testing | Loss-of-function variants in DHCR7 are known to be pathogenic (PMID: 9634533, 10677299). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DHCR7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr200*) in the DHCR7 gene. It is expected to result in an absent or disrupted protein product. |