ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)

gnomAD frequency: 0.00013  dbSNP: rs727503820
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152837 SCV000202233 uncertain significance not provided 2013-12-27 criteria provided, single submitter clinical testing
Invitae RCV001246608 SCV001419977 uncertain significance Bardet-Biedl syndrome 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 22 of the BBS4 protein (p.Arg22Trp). This variant is present in population databases (rs727503820, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 166732). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV000152837 SCV001989364 uncertain significance not provided 2019-05-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Molecular Endocrinology Laboratory, Christian Medical College RCV001823716 SCV002073497 uncertain significance Bardet-Biedl syndrome 4 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003415997 SCV004116595 uncertain significance BBS4-related condition 2023-12-04 criteria provided, single submitter clinical testing The BBS4 c.64C>T variant is predicted to result in the amino acid substitution p.Arg22Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.059% of alleles in individuals of Latino descent in gnomAD, which may be too common to be an undocumented pathogenic variant. Although we suspect that this variant may be benign, 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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