ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup)

dbSNP: rs1597533588
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796575 SCV000936094 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-10-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with FBN1-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.5746_5748dupTGC, results in the insertion of 1 amino acid(s) to the FBN1 protein (p.Cys1916dup), but otherwise preserves the integrity of the reading frame.

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