ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) (rs863223565)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200568 SCV000250192 likely pathogenic not provided 2013-04-04 criteria provided, single submitter clinical testing p.Met1152Ile (ATG>ATA): c.3456 G>A in exon 26 of the FBN2 gene (NM_001999.3) The Met1152Ile variant in the FBN2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Met1152Ile results in a conservative amino acid substitution of one non-polar residue for another, the Met1152 residue is conserved across species. In silico analysis predicts Met1152Ile is probably damaging to the protein structure/function. Mutations in nearby residues (Tyr1146Cys, Cys1156Phe) have been reported in association with contractural arachnodactyly, further supporting the functional importance of this region of the protein. Furthermore, the Met1152Ile 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. In summary, while Met1152Ile is a good candidate for a disease-causing mutation, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. This variant was found in TAAD

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