ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1072A>C (p.Lys358Gln)

gnomAD frequency: 0.00001  dbSNP: rs560253658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001921612 SCV002200561 uncertain significance Bardet-Biedl syndrome 2021-08-07 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 358 of the BBS4 protein (p.Lys358Gln). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS4-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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