ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7217_7226delinsTACAGA

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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,Partners HealthCare Personalized Medicine RCV000825585 SCV000966925 likely pathogenic Marfan syndrome 2018-02-08 criteria provided, single submitter clinical testing The p.Cys2406fs variant in FBN1 has not been previously reported in individuals with Marfan syndrome and was absent from large population studies, though the ab ility of these studies to accurately detect indels may be limited. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequen ce beginning at position 2406 and leads to a premature termination codon 31 amin o acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the FBN1 gene is an established disease mechanism in Marfan syndrome. In summary, although additional studies a re required to fully establish its clinical significance, the p.Cys2406fs varian t is likely pathogenic. ACMG/AMP Criteria applied (Richards 2015): PVS1, PM2.

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