ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1948dupC

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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 RCV000825586 SCV000966926 likely pathogenic Marfan syndrome 2018-03-20 criteria provided, single submitter clinical testing The p.Arg650fs variant in FBN1 has not been previously reported in individuals w ith clinical features of Marfan syndrome or in large population studies, though the ability of these studies to accurately detect indels may be limited. This va riant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 650 and leads to a premature termination codon 5 amino 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 establi shed disease mechanism in individuals with Marfan syndrome. In summary, although additional studies are required to fully establish its clinical significance, t he p.Arg650fs variant is likely pathogenic. ACMG/AMP Criteria applied (Richards 2015): PVS1, PM2.

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