ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2175T>C (p.Asn725=) (rs140606)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617118 SCV000319187 likely benign Cardiovascular phenotype 2016-06-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000245903 SCV000901052 likely benign Thoracic aortic aneurysm and aortic dissection 2017-06-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659516 SCV000781341 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000035132 SCV000168436 benign not specified 2013-11-01 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.
Illumina Clinical Services Laboratory,Illumina RCV000362638 SCV000392554 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000245903 SCV000392555 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332480 SCV000392556 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386967 SCV000392557 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292591 SCV000392558 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319536 SCV000392559 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373239 SCV000392560 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278611 SCV000392561 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556783 SCV000627852 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-05-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035132 SCV000058773 likely benign not specified 2012-07-19 criteria provided, single submitter clinical testing Asn725Asn in Exon 18 of FBN1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.06% (5/8592) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140606).

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