ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp)

gnomAD frequency: 0.00003  dbSNP: rs1175381219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304988 SCV001494296 uncertain significance Bardet-Biedl syndrome 2021-12-22 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 539 of the BBS2 protein (p.Arg539Trp). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007760). 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 disruptive. 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 RCV002486184 SCV002792079 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-11-16 criteria provided, single submitter clinical testing
GeneDx RCV003328670 SCV004035474 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001835474 SCV002089268 uncertain significance Bardet-Biedl syndrome 2 2020-02-21 no assertion criteria provided clinical testing

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