ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) (rs148888513)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253439 SCV000319249 likely benign Cardiovascular phenotype 2014-02-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Other data supporting pathogenic classification
Color RCV000777948 SCV000914046 likely benign Thoracic aortic aneurysm and aortic dissection 2018-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515425 SCV000611392 uncertain significance Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000035210 SCV000233836 likely benign not specified 2016-06-30 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.
Invitae RCV000632070 SCV000753173 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035210 SCV000058854 uncertain significance not specified 2014-04-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly1584Lys vari ant in FBN1 has been identified by our laboratory in 2 Hispanic individuals, one with a family history and one with clinical diagnosis of Marfan syndrome. This variant has also been identified in 1.8% (2/110) of Puerto Rican chromosomes by the 1000 Genomes Project (; dbSNP rs148888513). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. While this frequency suggests that thi s variant is more likely benign, the number of control individuals is too low to confidently rule out a disease-causing role. Additional information is needed t o fully assess its clinical significance.

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