ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)

gnomAD frequency: 0.00001  dbSNP: rs1288834218
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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 RCV001038584 SCV001202061 uncertain significance Bardet-Biedl syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 587 of the BBS2 protein (p.Pro587Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001832390 SCV002089263 uncertain significance Bardet-Biedl syndrome 2 2021-10-19 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004528347 SCV004107662 uncertain significance BBS2-related disorder 2024-01-31 no assertion criteria provided clinical testing The BBS2 c.1759C>T variant is predicted to result in the amino acid substitution p.Pro587Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) 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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