ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1128_1147+2dup

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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 RCV003810214 SCV004609833 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-20 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Marfan syndrome (Invitae). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.

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