ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6881-5T>G (rs772186151)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002264 SCV001160140 uncertain significance not specified 2018-12-19 criteria provided, single submitter clinical testing The FBN2 c.6881-5T>G variant (rs772186151), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Latino population with an allele frequency of 0.020% (7/35,366 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, given the lack of clinical and functional data, the significance of the c.6881-5T>G variant is uncertain at this time.

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