ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)

gnomAD frequency: 0.00004  dbSNP: rs372135700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229581 SCV001402032 uncertain significance Bardet-Biedl syndrome 2024-04-02 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 686 of the BBS2 protein (p.Arg686Trp). This variant is present in population databases (rs372135700, gnomAD 0.01%). 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: 956721). 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 BBS2 protein function with a positive 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.
Fulgent Genetics, Fulgent Genetics RCV002484252 SCV002787598 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-02-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538481 SCV004120273 uncertain significance BBS2-related disorder 2022-10-05 criteria provided, single submitter clinical testing The BBS2 c.2056C>T variant is predicted to result in the amino acid substitution p.Arg686Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56519505-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001828836 SCV002089251 uncertain significance Bardet-Biedl syndrome 2 2021-08-23 no assertion criteria provided clinical testing

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