ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)

dbSNP: rs193922236
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029781 SCV000052435 likely pathogenic Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000181599 SCV000233902 pathogenic not provided 2012-11-27 criteria provided, single submitter clinical testing c.7806 G>A (TGG>TGA): p.Trp2602Stop in exon 63 of the FBN1 gene (NM_000138.4) The Trp2602Stop mutation in the FBN1 gene has been reported as a de novo mutation in one individual with classic Marfan syndrome (Stheneur C et al., 2009). Trp2602Stop is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the FBN1 gene have been reported in association with Marfan syndrome.The variant is found in TAAD panel(s).
Ambry Genetics RCV002313722 SCV000738770 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2016-03-04 criteria provided, single submitter clinical testing The p.W2602* pathogenic mutation (also known as c.7806G>A), located in coding exon 62 of the FBN1 gene, results from a G to A substitution at nucleotide position 7806. This changes the amino acid from a tryptophan to a stop codon within coding exon 62. This mutation was detected in one individual with classic Marfan syndrome (Stheneur C, Eur. J. Hum. Genet. 2009 Sep; 17(9):1121-8). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Centre of Medical Genetics, University of Antwerp RCV000029781 SCV002025461 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4

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