ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059048 SCV001223652 likely pathogenic Smith-Lemli-Opitz syndrome 2019-07-22 criteria provided, single submitter clinical testing This variant, c.820_825del, results in the deletion of 2 amino acids of the DHCR7 protein (p.Asn274_Val275del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757697462, ExAC 0.01%). This variant has been observed in combination with another DHCR7 variant in an individual affected with Smith Lemli Opitz syndrome (Invitae). In this individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant disrupts the p.Asn274 amino acid residue in DHCR7. Other variant(s) that disrupt this residue have been observed in individuals with DHCR7-related conditions (PMID: 12818773), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.