ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5066-9_5086dup

dbSNP: rs1566903283
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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 RCV000702261 SCV000831108 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-07-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to be de novo in an individual affected with FBN1-related clinical features (Invitae). This variant is not present in population databases (ExAC no frequency). This variant, c.5066-9_5086dup, results in the insertion of 10 amino acid to the FBN1 protein (p.Cys1695_Tyr1696ins10), but otherwise preserves the integrity of the reading frame.

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