ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.276A>G (p.Thr92=)

dbSNP: rs2151023356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001918154 SCV002185778 uncertain significance Bardet-Biedl syndrome 2021-07-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 92 of the BBS4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BBS4 protein. This variant has not been reported in the literature in individuals affected with BBS4-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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