ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3258del (p.Cys1086fs)

dbSNP: rs1085307786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489618 SCV000577290 pathogenic not provided 2017-04-05 criteria provided, single submitter clinical testing Although the c.3258delT variant in the FBN1 gene has not been reported to our knowledge, this deletioncauses a shift in reading frame starting at codon Cysteine 1086, changing it to a Tryptophan, and creating apremature stop codon at position 2 of the new reading frame, denoted p.Cys1086TrpfsX2. This deletion isexpected to result in either an abnormal, truncated protein product or loss of protein from this allele throughnonsense-mediated mRNA decay. Other frameshift variants in the FBN1 gene have been reported inHGMD in association with Marfan syndrome (Stenson P et al., 2014). Furthermore, the c.3258delTvariant was not observed in approximately 6,500 individuals of European and African American ancestryin the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.3258delT in the FBN1 gene is interpreted as a pathogenic variant.

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