ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1057del (p.Val353fs)

dbSNP: rs759720450
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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, Inc. RCV000666554 SCV002093013 likely pathogenic Smith-Lemli-Opitz syndrome 2017-03-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.