Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667454 | SCV000791902 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667454 | SCV002112818 | pathogenic | Smith-Lemli-Opitz syndrome | 2023-07-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn268Metfs*14) 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 not present in population databases (gnomAD no frequency). 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: 552228). For these reasons, this variant has been classified as Pathogenic. |