ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7819+1G>A (rs112907302)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493377 SCV000582719 pathogenic not provided 2015-09-27 criteria provided, single submitter clinical testing The c.7819+1G>A pathogenic variant in the FBN1 gene has been reported previously in a French family with classical Marfan syndrome and was not detected in 200 French control individuals. (Stheneur et al., 2009). This splice site variant destroys the canonical splice donor site in intron 63. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.7819+1G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Pathogenic variants involving the intron 63 splice donor site (c.7819+3A>C, c.7819+5G>A) have been previously reported in the Human Gene Mutation Database in association with Marfan syndrome (Stenson et al., 2014), supporting the importance of this region of the gene. We interpret c.7819+1G>A as a pathogenic variant.
Center for Medical Genetics Ghent,University of Ghent RCV000663981 SCV000787363 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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