ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) (rs148609143)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513933 SCV000609803 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717470 SCV000848322 uncertain significance History of neurodevelopmental disorder 2018-01-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513933 SCV000861907 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763769 SCV000894665 uncertain significance Smith-Lemli-Opitz syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763769 SCV000947860 uncertain significance Smith-Lemli-Opitz syndrome 2019-01-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 240 of the DHCR7 protein (p.Asn240Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs148609143, ExAC 0.03%). This variant has not been reported in the literature in individuals with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 445437). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.