ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) (rs111984349)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253245 SCV000320082 likely pathogenic Cardiovascular phenotype 2015-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Other strong data supporting pathogenic classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
Invitae RCV000540250 SCV000627998 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-07-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2610 of the FBN1 protein (p.Glu2610Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in many unrelated individuals affected with Marfan syndrome (PMID: 10464652, 10533071, 16222657, 17657824, 21542060, 24161884). This variant has also been reported in additional individuals in the Universal Mutation Database (PMID: 17701892). ClinVar contains an entry for this variant (Variation ID: 264272). For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc RCV000659583 SCV000781421 pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763353 SCV000894043 pathogenic Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 2018-10-31 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000659583 SCV000787366 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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