ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.233G>A (p.Arg78His)

gnomAD frequency: 0.00003  dbSNP: rs200396355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001994210 SCV002269152 uncertain significance Bardet-Biedl syndrome 2022-04-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 78 of the BBS4 protein (p.Arg78His). This variant is present in population databases (rs200396355, gnomAD 0.006%). 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.
Fulgent Genetics, Fulgent Genetics RCV002484923 SCV002787394 uncertain significance Bardet-Biedl syndrome 4 2021-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941238 SCV004749428 uncertain significance BBS4-related disorder 2024-03-01 criteria provided, single submitter clinical testing The BBS4 c.233G>A variant is predicted to result in the amino acid substitution p.Arg78His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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