ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.587G>A (p.Arg196Gln)

gnomAD frequency: 0.00001  dbSNP: rs142769864
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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 RCV001361617 SCV001557596 uncertain significance Bardet-Biedl syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 196 of the BBS1 protein (p.Arg196Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs142769864, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with BBS1-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: "Tolerated"; 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.
Fulgent Genetics, Fulgent Genetics RCV001831220 SCV005683596 uncertain significance Bardet-Biedl syndrome 1 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831220 SCV002094732 uncertain significance Bardet-Biedl syndrome 1 2020-05-14 no assertion criteria provided clinical testing

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