ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3338A>G (p.Asp1113Gly) (rs140597)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802396 SCV000942226 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1113 of the FBN1 protein (p.Asp1113Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals with clinical features of Marfan syndrome and observed to segregate with Marfan syndrome in a family (PMID: 28941062, 17663468, 10464652, Invitae). ClinVar contains an entry for this variant (Variation ID: 549158). This variant has been reported to affect FBN1 protein function (PMID: 17324963). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent,University of Ghent RCV000663632 SCV000786954 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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