ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.952+3G>T

dbSNP: rs1554069982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553881 SCV000630269 uncertain significance Congenital contractural arachnodactyly 2017-02-08 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the FBN2 gene. It does not directly change the encoded amino acid sequence of the FBN2 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FBN2-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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