ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.332+2dup

dbSNP: rs753360929
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002028283 SCV002287147 uncertain significance Bardet-Biedl syndrome 2021-05-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the BBS4 gene. It does not directly change the encoded amino acid sequence of the BBS4 protein. It affects a nucleotide within the consensus splice site of the intron.

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