ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)

dbSNP: rs146867923
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079659 SCV000111542 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380891 SCV000373930 uncertain significance Smith-Lemli-Opitz syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago RCV000079659 SCV000594363 likely benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313767 SCV000848540 likely benign Inborn genetic diseases 2021-09-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000380891 SCV001021812 likely benign Smith-Lemli-Opitz syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001554963 SCV001776304 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001554963 SCV004137207 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DHCR7: BS2
PreventionGenetics, part of Exact Sciences RCV003925050 SCV004742001 likely benign DHCR7-related disorder 2020-07-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000380891 SCV002093081 likely benign Smith-Lemli-Opitz syndrome 2017-05-05 no assertion criteria provided 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.