ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)

gnomAD frequency: 0.00002  dbSNP: rs775034584
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169316 SCV000220644 likely pathogenic Smith-Lemli-Opitz syndrome 2014-08-26 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV000169316 SCV001506239 uncertain significance Smith-Lemli-Opitz syndrome 2022-01-14 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the DHCR7 mRNA. It is expected to extend the length of the DHCR7 protein by 51 additional amino acid residues. This variant is present in population databases (rs775034584, gnomAD 0.02%). This protein extension has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 16044199). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 188942). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.