Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667799 | SCV000792303 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2017-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667799 | SCV001419673 | pathogenic | Smith-Lemli-Opitz syndrome | 2023-11-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp290*) in the DHCR7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DHCR7 are known to be pathogenic (PMID: 9634533, 10677299). This variant is present in population databases (rs774187452, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 552520). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000667799 | SCV002803354 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2021-08-07 | criteria provided, single submitter | clinical testing |