ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)

dbSNP: rs556899786
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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 RCV001046291 SCV001210188 uncertain significance Bardet-Biedl syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 542 of the BBS2 protein (p.Gly542Cys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 843618). 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 C25"). 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 RCV002481924 SCV002793813 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-06-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827288 SCV002089267 uncertain significance Bardet-Biedl syndrome 2 2020-02-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733121 SCV005343337 uncertain significance BBS2-related disorder 2024-03-23 no assertion criteria provided clinical testing The BBS2 c.1624G>T variant is predicted to result in the amino acid substitution p.Gly542Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% 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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