ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln)

gnomAD frequency: 0.00002  dbSNP: rs761068592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559165 SCV001781255 uncertain significance Bardet-Biedl syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559166 SCV001781256 uncertain significance Retinitis pigmentosa 74 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568386 SCV002935312 uncertain significance Bardet-Biedl syndrome 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 715 of the BBS2 protein (p.Arg715Gln). This variant is present in population databases (rs761068592, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 28143435). ClinVar contains an entry for this variant (Variation ID: 1195901). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BBS2 protein function with a negative predictive value of 80%. 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.

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