ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4302del (p.Phe1435fs)

dbSNP: rs2043385268
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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 RCV001225499 SCV001397781 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2019-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1435Serfs*40) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). 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 not been reported in the literature in individuals with FBN1-related conditions. This variant is not present in population databases (ExAC no frequency).

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