Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003058337 | SCV003440345 | pathogenic | Smith-Lemli-Opitz syndrome | 2022-07-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 9653161). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn240Lysfs*22) 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). |