ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.827C>G (p.Thr276Ser)

gnomAD frequency: 0.00001  dbSNP: rs776282237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774547 SCV002002001 uncertain significance not provided 2020-02-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Fulgent Genetics, Fulgent Genetics RCV005014647 SCV005644049 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733377 SCV005359552 uncertain significance BBS2-related disorder 2023-11-29 no assertion criteria provided clinical testing The BBS2 c.827C>G variant is predicted to result in the amino acid substitution p.Thr276Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) 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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