ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4406G>C (p.Arg1469Pro) (rs397515808)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035200 SCV000058842 likely pathogenic Marfan syndrome 2011-10-13 criteria provided, single submitter clinical testing The Arg1469Pro variant has not previously been reported nor previously identifie d by our laboratory in any other families. However, identification of this varia nt in 2 cousins whom have clinical features of Marfan syndrome, and therefore se gregating across 3 informative meioses in this family, increases the likelihood that this variant is pathogenic. In addition, arginine (Arg) at amino acid posit ion 1469 is highly conserved across evolutionarily distant species and this vari ant lies within a functional domain of FBN1, which also increases the likelihood that this variant is pathogenic. In summary, this variant is likely to be patho genic. The clinical significance of this variant should be interpreted in the co ntext of this individual's clinical manifestation.
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV000610340 SCV000731228 likely pathogenic Thoracic aortic aneurysm and aortic dissection no assertion criteria provided research

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