ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.533-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, West China Hospital, Sichuan University RCV001256186 SCV001422502 pathogenic Congenital contractural arachnodactyly criteria provided, single submitter clinical testing A de novo variation of c.533-1 G >C in the FBN2 gene was identified in a patient with congenital pectus excavatum, high palatal arch and heart disease. The variant was not present in his parents. This variant is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product and result in the loss of function of FBN2, which contributes to Contractural arachnodactyly. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FBN2-related conditions.

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