ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)

gnomAD frequency: 0.00001  dbSNP: rs2065449512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069672 SCV001234858 uncertain significance Bardet-Biedl syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 97 of the BBS4 protein (p.Ser97Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573156 SCV001798586 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001573156 SCV001924450 uncertain significance not provided no assertion criteria provided clinical testing

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