ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2420-2A>G (rs1060501052)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457150 SCV000544881 likely pathogenic Marfan syndrome 2016-08-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 20 of the FBN1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FBN1-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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