ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6722_6725dup (p.Arg2243fs)

dbSNP: rs794728318
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181673 SCV000233976 pathogenic not provided 2014-03-02 criteria provided, single submitter clinical testing Although the c.6722_6725dupACCG variant in the FBN1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Arginine 2243, changing it to a Proline, and creating a premature stop codon at position 2 of the new reading frame, denoted p.Arg2243ProfsX2. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the FBN1 gene have been reported in association with Marfan syndrome. In summary, c.6722_6725dupACCG in the FBN1 gene is interpreted as a pathogenic variant.

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