ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)

gnomAD frequency: 0.00006  dbSNP: rs371640952
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125043 SCV000168483 benign not specified 2013-12-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000726689 SCV000702110 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055536 SCV002475383 likely benign Congenital contractural arachnodactyly 2024-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444586 SCV002753992 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-05 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125043 SCV005040623 likely benign not specified 2024-03-28 criteria provided, single submitter clinical testing

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