ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8256del (p.Ala2754fs)

dbSNP: rs1064793503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481974 SCV000566278 pathogenic not provided 2015-04-30 criteria provided, single submitter clinical testing Although the c.8256delT deletion in the FBN1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Alanine 2754, changing it to a Glutamine, and creating apremature stop codon at position 25 of the new reading frame, denoted p.Ala2754GlnfsX25. This deletionreplaces the last 118 amino acids of the FBN1 protein with 24 incorrect amino acids. Other truncatingvariants in the FBN1 gene have been reported in HGMD in association with Marfan syndrome (Stenson P etal., 2014). Furthermore, the c.8256delT variant was not observed in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. In summary, c.8256delT in the FBN1 gene is interpreted as a pathogenic variant.

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