ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.412+3A>T

gnomAD frequency: 0.00001  dbSNP: rs786200926
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
Invitae RCV000023212 SCV002288289 likely pathogenic Smith-Lemli-Opitz syndrome 2021-11-11 criteria provided, single submitter clinical testing This variant is also known as IVS5+3A>T. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 5 and introduces a premature termination codon (PMID: 20635399). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 30278). This variant has been observed in individual(s) with clinical features of Smith-Lemli-Opitz syndrome (PMID: 20635399). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the DHCR7 gene. It does not directly change the encoded amino acid sequence of the DHCR7 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
OMIM RCV000023212 SCV000044503 pathogenic Smith-Lemli-Opitz syndrome 2010-08-01 no assertion criteria provided literature only

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.