ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1763dup (p.Asn588fs) (rs863223595)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198120 SCV000250268 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing c.1763dupA: p.Asn588LysfsX20 (N588Kfsx20) in exon 13 of the FBN2 gene (NM_001999.3). The normal sequence with the bases that are duplicated in braces is: TAAAA{A}CGGT. The c.1763dupA variant in the FBN2 gene has not been reported to our knowledge. This variant causes a shift in reading frame starting at codon Asparagine588, changing it to a Lysine, and creating a premature stop codon at position 20 of the new reading frame, denoted p.Asn588LysfsX20. This variant may result in an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Most of the mutations reported in FBN2 result in missense substitutions or in-frame exon deletions/duplications, which may suggest a gain-of-function effect. Therefore, loss-of-function mutations may not be a mechanism of disease for FBN2. This variant was found in TAAD

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