ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)

gnomAD frequency: 0.00002  dbSNP: rs371103773
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000464833 SCV000544862 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181137 SCV001346223 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-23 criteria provided, single submitter clinical testing This missense variant replaces arginine with lysine at codon 1262 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 5/251120 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002481397 SCV002789654 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 2021-10-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000731 SCV004814778 uncertain significance Marfan syndrome 2023-11-28 criteria provided, single submitter clinical testing This missense variant replaces arginine with lysine at codon 1262 of the FBN1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/251120 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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.