ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1865G>A (p.Arg622Gln)

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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 RCV002599447 SCV003497456 uncertain significance Bardet-Biedl syndrome 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 622 of the BBS2 protein (p.Arg622Gln). This variant is present in population databases (rs759714501, 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 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.
Dept Of Ophthalmology, Nagoya University RCV003889246 SCV004705053 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005021593 SCV005643995 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-06-10 criteria provided, single submitter clinical testing

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