ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4680C>T (p.Pro1560=)

gnomAD frequency: 0.00001  dbSNP: rs377502943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659622 SCV000781461 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000936084 SCV001081845 likely benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619372 SCV005113232 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-04-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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