ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)

gnomAD frequency: 0.00001  dbSNP: rs761760689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670649 SCV000795531 uncertain significance Bardet-Biedl syndrome 1 2017-11-08 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724126 SCV001950209 uncertain significance Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Gly222Arg variant in BBS1 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PM3-P. Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861797 SCV002134211 likely pathogenic Bardet-Biedl syndrome 2022-12-04 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BBS1 protein function. ClinVar contains an entry for this variant (Variation ID: 554929). This missense change has been observed in individuals with BBS1-related conditions (PMID: 28143435; Invitae). This variant is present in population databases (rs761760689, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 222 of the BBS1 protein (p.Gly222Arg). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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