ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6313+2T>C (rs1555395257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000663861 SCV000787219 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
GeneDx RCV000519359 SCV000618005 pathogenic not provided 2016-02-09 criteria provided, single submitter clinical testing Although the c.6313+2 T>C variant has not been reported as a pathogenic variant or as a benign variant to our knowledge, it destroys the canonical splice donor site in intron 51 and is predicted to cause abnormal gene splicing. The c.6313+2 T>C variant is predicted to result in in-frame skipping of exon 51 and the loss of one TGF-beta binding domain. Other splice site variants in the FBN1 gene resulting in skipping of exon 51 have been reported in the Human Gene Mutation Database in association with FBN1-related disorders (Stenson et al., 2014). Furthermore, the c.6313+2 T>C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.6313+2 T>C in the FBN1 gene is interpreted as a pathogenic variant

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