ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.583-8C>T (rs10166835)

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
GeneDx RCV000124396 SCV000167829 benign not specified 2013-07-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000232634 SCV000283466 benign Ehlers-Danlos syndrome, type 4 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000124396 SCV000302051 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000232634 SCV000425503 benign Ehlers-Danlos syndrome, type 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000588223 SCV000695378 benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.583-8C>T variant involves the alteration of an intronic non-conserved nucleotide. Mutation taster predicts benign outcome for this substitution. 3/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is found in 225/105268 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.026, including 8 homozygous occurrences. This greatly exceeds the estimated maximal expected allele frequency for a pathogenic variant (0.0000013), suggesting this is a benign polymorphism found primarily in population of African origin. To our knowledge, the variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories. One clinical laboratory has classified this variant as Benign via ClinVar (without evidence to independently evaluate). Considering the high prevalence of the variant in the African subpopulation, it was classified as Benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769563 SCV000900960 benign Familial thoracic aortic aneurysm and aortic dissection 2016-05-02 criteria provided, single submitter clinical testing
Color RCV000769563 SCV000904536 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-09 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.