ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2343T>C (p.Cys781=)

dbSNP: rs199647257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243636 SCV000317807 likely benign Cardiovascular phenotype 2012-10-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058495 SCV002469481 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-08-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999005 SCV004832586 uncertain significance Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing This variant is located in the FBN1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 1/251352 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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