ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6013_6014insTA (p.Ser2005fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018308 SCV004847476 likely pathogenic Marfan syndrome 2016-05-05 criteria provided, single submitter clinical testing The 6013_6014insTA (Ser2005IlefsX55) variant has not been previously reported in the literature or been identified by our laboratory. This variant leads to a premature stop codon. Protein truncating variants are common in FBN1; therefore, this variant is likely to be pathogenic. From this DNA sequencing test, we cannot determine the effect this nucleotide change will have on the protein produced. It is possible that a truncated protein is generated; as the nucleotide change is predicted to lead to a stop codon at amino acid 2059. Alternatively, no protein would be produced from this allele if nonsense-mediated decay occurs, as premature stop codons frequently result in degradation of the mRNA.

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