Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667615 | SCV000792093 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667615 | SCV001589495 | pathogenic | Smith-Lemli-Opitz syndrome | 2020-05-07 | 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. ClinVar contains an entry for this variant (Variation ID: 552371). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu292*) in the DHCR7 gene. It is expected to result in an absent or disrupted protein product. |