ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.892C>T (p.Arg298Trp)

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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 RCV002917993 SCV003251216 uncertain significance Bardet-Biedl syndrome 2022-04-29 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 298 of the BBS2 protein (p.Arg298Trp). This variant is present in population databases (rs564480063, gnomAD 0.07%), including at least one homozygous and/or hemizygous individual. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV005019451 SCV005644044 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-05-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733539 SCV005345130 uncertain significance BBS2-related disorder 2024-03-04 no assertion criteria provided clinical testing The BBS2 c.892C>T variant is predicted to result in the amino acid substitution p.Arg298Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.069% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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