ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.5588G>A (p.Gly1863Glu) (rs113086760)

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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 RCV000035230 SCV000058875 likely pathogenic Marfan syndrome 2016-07-14 criteria provided, single submitter clinical testing The p.Gly1863Glu variant in FBN1 has been identified in 2 individuals with Marfa n syndrome, and segregated with disease in 7 affected relatives from 2 families (including 1 obligate carrier; Baudhuin 2015, LMM Data). This variant was absent from 2 large population databases (ExAC and ESP). However, this variant has bee n identified in 0.4% (4/1094) of chromosomes from an unspecified population, tho ugh it is possible this is a clinical cohort (dbSNP rs113086760). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, although additional studies are required to fully establis h its clinical significance, the p.Gly1863Glu variant meets criteria to be class ified as likely pathogenic for Marfan syndrome in an autosomal dominant based up on segregation studies.

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