ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3337+1G>A (rs397515789)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035167 SCV000058809 likely pathogenic Marfan syndrome 2008-03-01 criteria provided, single submitter clinical testing
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations RCV000035167 SCV000987212 pathogenic Marfan syndrome 2019-08-30 criteria provided, single submitter clinical testing The intronic c.3337+1G>A variant was reported in one Chinese patient with aortic disease and was tested positive for a pathogenic mutation (PMID: 27611364). The variant is absent from large population studies (ExAC no frequency). ClinVar has an entry for this variant (Variation ID: 42331). There are known 3 other variants at this position: c.3337+1G>T, c.3337+1G>C, c.3337+1delG; two reported on the ClinVar (Variation ID: 527150, 574182) and one was studied in relation with MFS (PMID: 16220557). The c.3337+1G position is canonical splice site donor, all above reports on alteration of this nucleotide position show disruption of normal RNA splicing. Based on this evidences the c.3337+1G>A variant is classified as Pathogenic.

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