ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1938A>G (p.Gly646=) (rs1057518608)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414715 SCV000492404 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FBN2 gene. The c.1938 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This 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.1938 A>G variant results in a synonymous change of the residue G646 which is not conserved across species. This variant is predicted to result in aberrant gene splicing by creating a cryptic splice donor site; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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