ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro)

dbSNP: rs192007013
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203189 SCV001374341 uncertain significance Bardet-Biedl syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 403 of the BBS2 protein (p.Arg403Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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