ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6164-3C>T (rs571365493)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620610 SCV000738825 uncertain significance Cardiovascular phenotype 2016-07-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000777847 SCV000913849 likely benign Thoracic aortic aneurysm and aortic dissection 2018-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000181557 SCV000233860 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing c.6164-3 C>T: IVS50-3 C>T in intron 50 of the FBN1 gene (NM_000138.4)The c.6164-3 C>T variant in the FBN1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. One in silico splice prediction algorithm predicts c.6164-3 C>T destroys or severely damages the natural splice acceptor site of intron 50, however a different algorithm predicts c.6164-3 C>T has no effect on splicing. Other splice site mutations in the FBN1 gene have been reported in association with Marfan syndrome. The c.6164-3 C>T 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.With the clinical and molecular information available at this time, we cannot definitively determine if c.6164-3 C>T is a disease-causing mutation or a rare benign variant. The variant is found in TAAD panel(s).
Invitae RCV000549219 SCV000627956 uncertain significance Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-11-14 criteria provided, single submitter clinical testing

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