ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6616+1G>C

dbSNP: rs1064793980
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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 RCV000557422 SCV000627967 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2017-04-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 54 of the FBN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For this reason this variant has been classified as Pathogenic. This variant has been reported in individuals in the Universal Mutation Database (PMID: 12938084).

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