ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.999C>G (p.Phe333Leu)

gnomAD frequency: 0.00001  dbSNP: rs774619624
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001985915 SCV002263924 uncertain significance Bardet-Biedl syndrome 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 333 of the BBS4 protein (p.Phe333Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs774619624, ExAC 0.01%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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