ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7205G>A (p.Arg2402His)

gnomAD frequency: 0.00033  dbSNP: rs148014419
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192472 SCV000247369 uncertain significance not specified 2014-10-27 criteria provided, single submitter clinical testing
GeneDx RCV001721252 SCV000250240 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000532448 SCV000630253 likely benign Congenital contractural arachnodactyly 2024-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314816 SCV000738962 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-08-17 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.
PreventionGenetics, part of Exact Sciences RCV004745261 SCV005350435 likely benign FBN2-related disorder 2024-08-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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