ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2863+3G>A

gnomAD frequency: 0.00001  dbSNP: rs762144935
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552888 SCV000630206 uncertain significance Congenital contractural arachnodactyly 2017-04-12 criteria provided, single submitter clinical testing In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. This variant is present in population databases (rs762144935, ExAC 0.006%) but has not been reported in the literature in individuals with a FBN2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies.

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