ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7204+7C>G (rs371763964)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513468 SCV000608717 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001087524 SCV000627982 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-07-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780263 SCV000917373 uncertain significance not specified 2017-12-27 criteria provided, single submitter clinical testing Variant summary: The FBN1 c.7204+7C>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SRp55 and SC35.However, these predictions have yet to be confirmed by functional studies. This variant was found in 21/276618 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000166 (21/126254). This frequency is somewhat higher than the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant was reported in the literature as a polymorphism (Katzke 2002). In addition, clinical diagnostic laboratories classified this variant with conflicting interpretations of pathogenicity (1 likely benign / 1 uncertain significance). Taken together, this variant is classified as VUS-possibly benign.
GeneDx RCV000513468 SCV000984277 likely benign not provided 2018-04-20 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.

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.