ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) (rs886038848)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253774 SCV000318525 likely pathogenic Cardiovascular phenotype 2017-06-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Well-characterized mutation at same position,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
Integrated Genetics/Laboratory Corporation of America RCV000781361 SCV000919338 pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 2018-12-17 criteria provided, single submitter clinical testing Variant summary: FBN1 c.5372G>A (p.Cys1791Tyr) results in a non-conservative amino acid change located in the EGF-like calcium-binding domain (IPR001881) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 246008 control chromosomes. c.5372G>A has been reported in the literature in individuals affected with Marfan Syndrome. These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Center for Medical Genetics Ghent,University of Ghent RCV000663780 SCV000787131 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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