Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029781 | SCV000052435 | likely pathogenic | Marfan syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Gene |
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, |
RCV000029781 | SCV002025461 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP4 |