ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1339AATGGC[3] (p.447NG[3]) (rs863223593)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199832 SCV000250266 likely pathogenic not provided 2014-08-22 criteria provided, single submitter clinical testing c.1345_1350dupAATGGC: p.Asn449_Gly450dup in exon 10 in the FBN2 gene (NM_001999.3). The normal sequence with the bases that are duplicated in braces is: TCCG{AATGGC}TATG. The c.1345_1350dupAATGGC variant causes an in-frame duplication of two amino acid residues (Asn, Gly) at positions that are well-conserved, but not located within a functional domain. The c.1345_1350dupAATGGC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1345_1350dupAATGGC variant is a good candidate for a disease-causing mutation. However, the possibility that c.1345_1350dupAATGGC may be a rare benign variant cannot be excluded. This variant was found in FBN2.

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