ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)

gnomAD frequency: 0.00001  dbSNP: rs745650955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176210 SCV001340093 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-02 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 2676 of the FBN1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 7/249720 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.
Centre of Medical Genetics, University of Antwerp RCV002246017 SCV002025555 uncertain significance Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PP3, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002555453 SCV003260112 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-04-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002246017 SCV004844930 uncertain significance Marfan syndrome 2023-09-17 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 2676 of the FBN1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 7/249720 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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