ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.332+5G>A

gnomAD frequency: 0.00002  dbSNP: rs758789705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075125 SCV001240736 uncertain significance Retinal dystrophy 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV001862844 SCV002188889 uncertain significance Bardet-Biedl syndrome 2022-10-24 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs758789705, gnomAD 0.004%). This variant has been observed in individual(s) with Bardet-Biedl syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 866813). Variants that disrupt 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. 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.

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