ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)

gnomAD frequency: 0.00011  dbSNP: rs560253338
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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 RCV001219394 SCV001391330 uncertain significance Bardet-Biedl syndrome 2022-06-30 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 506 of the BBS2 protein (p.Arg506Trp). This variant is present in population databases (rs560253338, gnomAD 0.03%). 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: 948185). 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 disruptive. 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 RCV002484191 SCV002786675 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833904 SCV002089272 uncertain significance Bardet-Biedl syndrome 2 2020-02-26 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733183 SCV005367483 uncertain significance BBS2-related disorder 2024-06-27 no assertion criteria provided clinical testing The BBS2 c.1516C>T variant is predicted to result in the amino acid substitution p.Arg506Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of African 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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