ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1208G>A (p.Arg403His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002611755 SCV003508308 uncertain significance Bardet-Biedl syndrome 2022-03-12 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 403 of the BBS2 protein (p.Arg403His). This variant is present in population databases (rs192007013, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV005021618 SCV005644029 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733594 SCV005357146 uncertain significance BBS2-related disorder 2024-07-24 no assertion criteria provided clinical testing The BBS2 c.1208G>A variant is predicted to result in the amino acid substitution p.Arg403His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0097% of alleles in individuals of European (Non-Finnish) descent in gnomAD. A different missense variant affecting the same amino acid (c.1207C>T, p.Arg403Cys) was reported in the homozygous state in an individual with features of Bardet–Biedl syndrome (Abu-Safieh et al 2012. PubMed ID: 22353939). At this time, the clinical significance of the c.1208G>A (p.Arg403His) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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