Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666554 | SCV000790862 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2017-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666554 | SCV000947771 | pathogenic | Smith-Lemli-Opitz syndrome | 2023-09-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DHCR7 protein in which other variant(s) (p.Tyr382*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 551481). This premature translational stop signal has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 11111101). This variant is present in population databases (rs759720450, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Val353Trpfs*60) in the DHCR7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 123 amino acid(s) of the DHCR7 protein. |
Natera, |
RCV000666554 | SCV002093013 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2017-03-16 | no assertion criteria provided | clinical testing |