ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.209T>C (p.Val70Ala) (rs144149249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756150 SCV000883874 likely benign not provided 2017-12-22 criteria provided, single submitter clinical testing The c.209T>C variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is present in the genome Aggregation Database with an African population frequency of 0.13% (29 out of 22,888 chromosomes). The valine at position 70 is weakly conserved considering 11 species (Alamut software v.2.10.0) and computational algorithms do not predict that the variant has an impact on FBN2 structure or function (SIFT: tolerated, Poly-Phen 2: benign, Mutation Tester: polymorphism). Therefore, the c.209T>C variant is likely to be benign.
Invitae RCV001404545 SCV001606447 likely benign Congenital contractural arachnodactyly 2019-12-31 criteria provided, single submitter clinical testing

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