ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu)

dbSNP: rs1725285743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240174 SCV001413098 uncertain significance Bardet-Biedl syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 535 of the BBS7 protein (p.Pro535Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS7-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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