ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) (rs80338864)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790762 SCV000233038 pathogenic not provided 2013-08-13 criteria provided, single submitter clinical testing
Counsyl RCV000020435 SCV000677965 likely pathogenic Smith-Lemli-Opitz syndrome 2015-06-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000020435 SCV000697853 pathogenic Smith-Lemli-Opitz syndrome 2017-06-30 criteria provided, single submitter clinical testing Variant summary: The DHCR7 c.1342G>A (p.Glu448Lys) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 1/117588 control chromosomes at a frequency of 0.0000085, which does not exceed the estimated maximal expected allele frequency of a pathogenic DHCR7 variant (0.0043301). The variant has been reported in numerous SLOS patients both in the homozygous and compound heterozygous state, and is known as a common disease variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Baylor Genetics RCV000020435 SCV001163679 pathogenic Smith-Lemli-Opitz syndrome criteria provided, single submitter clinical testing
OMIM RCV000020435 SCV000027390 pathogenic Smith-Lemli-Opitz syndrome 2003-09-15 no assertion criteria provided literature only
GeneReviews RCV000020435 SCV000040848 pathologic Smith-Lemli-Opitz syndrome 2007-10-24 no assertion criteria provided curation Converted during submission to 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.