ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)

gnomAD frequency: 0.00004  dbSNP: rs775206410
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
Eurofins Ntd Llc (ga) RCV000333932 SCV000337778 uncertain significance not provided 2015-11-25 criteria provided, single submitter clinical testing
Invitae RCV000687611 SCV000815188 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000333932 SCV002000963 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 284953; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN1 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003)
Fulgent Genetics, Fulgent Genetics RCV002503992 SCV002815150 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-09-01 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.