ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) (rs397515822)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035226 SCV000058871 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397998 SCV000392296 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303570 SCV000392297 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355990 SCV000392298 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263353 SCV000392299 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297465 SCV000392300 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354690 SCV000392301 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276436 SCV000392302 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330003 SCV000392303 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000035226 SCV000520906 likely benign not specified 2017-08-10 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589101 SCV000695559 benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The c.5442C>T (p.Asn1814=) in FBN1 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 in silico 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 present in the control population dataset of ExAC at frequency of 0.00014 (18/121254 chrs tested), which exceeds the maximal expected frequency of a pathogenic allele (0.000125) in this gene. The variant of interest was cited as Likely Benign by reputable database/clinical laboratory. Taking together, the variant was classified as Benign.
Color Health, Inc RCV000276436 SCV000913674 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-23 criteria provided, single submitter clinical testing
Invitae RCV001468352 SCV001672395 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-07-13 criteria provided, single submitter clinical testing

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