ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3193del (p.Glu1065fs) (rs193922198)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029724 SCV000052377 likely pathogenic Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000029724 SCV000058805 likely pathogenic Marfan syndrome 2008-09-18 criteria provided, single submitter clinical testing
Invitae RCV000544271 SCV000627888 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-03-15 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 26 of the FBN1 mRNA (c.3193delG), causing a frameshift at codon 1065. This creates a premature translational stop signal (p.Glu1065Lysfs*23) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBN1 are known to be pathogenic. This particular variant has been reported in individuals affected with Marfan syndrome (PMID: 24793577, 26188975). ClinVar contains an entry for this variant (Variation ID: 36064). For these reasons, this variant has been classified as Pathogenic.
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV000606802 SCV000731222 pathogenic Thoracic aortic aneurysm and aortic dissection no assertion criteria provided research

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