ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.117+5C>T

gnomAD frequency: 0.00001  dbSNP: rs1460934723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230653 SCV001403139 uncertain significance Bardet-Biedl syndrome 2021-06-24 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the BBS2 gene. It does not directly change the encoded amino acid sequence of the BBS2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS2-related conditions. 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. 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.
Natera, Inc. RCV001828842 SCV002089312 uncertain significance Bardet-Biedl syndrome 2 2021-09-21 no assertion criteria provided clinical testing

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