ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) (rs139721775)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000512660 SCV000883710 benign not provided 2018-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716136 SCV000846972 likely benign History of neurodevelopmental disorder 2016-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512660 SCV000608603 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079642 SCV000111525 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000512660 SCV000697852 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing Variant summary: The DHCR7 c.1341C>T (p.Asp447Asp) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may eliminate ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 399/117638 control chromosomes (6 homozygotes) at a frequency of 0.0033918, which does not exceed the estimated maximal expected allele frequency of a pathogenic DHCR7 variant (0.0043301).Review publications, Jira_2003 and Wareham_2000, classify the variant as a "polymorphism," along with a publication indicating the variant to have been found in a cohort of SLOS patients and classified it as "polymorphism," as well as suggesting the variant may have co-occurred with a deleterious DHCR7 variant. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." Taken together, this variant is classified as "likely benign."
Invitae RCV000556845 SCV000630072 benign Smith-Lemli-Opitz syndrome 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079642 SCV000307640 likely benign not specified criteria provided, single submitter 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.