ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2003_2007dup (p.Cys670fs)

dbSNP: rs1555399769
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479061 SCV000566042 pathogenic not provided 2015-04-07 criteria provided, single submitter clinical testing Although the c.2003_2007dupGCCAG variant in the FBN1 gene has not been reported to our knowledge,this duplication causes a shift in reading frame starting at codon Cysteine 670, changing it to an Alanine, and creating a premature stop codon at position 50 of the new reading frame, denoted p.Cys670AlafsX50. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from thisallele through nonsense-mediated mRNA decay. Other frameshift variants in the FBN1 gene have beenreported in HGMD in association with Marfan syndrome (Stenson P et al., 2014). In summary, c.2003_2007dupGCCAG in the FBN1 gene is interpreted as a pathogenic variant.

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