Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411661 | SCV000486535 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411661 | SCV004304794 | pathogenic | Smith-Lemli-Opitz syndrome | 2023-07-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln6*) 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 (no rsID available, gnomAD 0.006%). 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: 371066). For these reasons, this variant has been classified as Pathogenic. |