ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1982G>A (p.Arg661His)

gnomAD frequency: 0.00003  dbSNP: rs747686535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041070 SCV001204665 uncertain significance Bardet-Biedl syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 661 of the BBS2 protein (p.Arg661His). This variant is present in population databases (rs747686535, 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: 839337). 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. 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.
Preventiongenetics, part of Exact Sciences RCV003396642 SCV004105680 uncertain significance BBS2-related condition 2023-09-06 criteria provided, single submitter clinical testing The BBS2 c.1982G>A variant is predicted to result in the amino acid substitution p.Arg661His. 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/16-56519579-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001273904 SCV001457498 uncertain significance Bardet-Biedl syndrome 2 2020-01-17 no assertion criteria provided clinical testing

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